David A Stumpf, MD, PhD
Updated February 20, 2017

Brief Biography

David A Stumpf, MD, PhD is Professor Emeritus at Northwestern University Feinberg School of Medicine (NUFSM). He is an Innovation Broker and President and lead consultant at Woodstock Health Information and Technology, bringing a rich array of executive experience to consulting engagements. He is a Mentor at Chicago Innovation Mentors @MATTER. In the Illinois State Medical Society, he is currently a Member of the House of Delegates and the Council on Economics. He has expertise in early stage companies, merger and acquisition, and a variety of health information technology areas (common ontologies supporting evidence based rules, clinical decision support, coordination of care, assessment of competencies, practice improvement, preferences, and new reimbursement strategies). He has held executive and leadership roles in academic, clinical practice, hospital, professional society, and payer venues. He spent six years at UnitedHealth Group in several executive roles. At NUFSM he served as Chair of Neurology and member of the Board of Directors at Northwestern Memorial Hospital, Northwestern Medical Faculty Foundation, the Pediatric Faculty Foundation and the Children's Memorial Foundation. He previously taught in the Northwestern Masters in Medical Informatics program. As a medical informaticist, he has worked with the National Quality Forum (NQF), the Physicians Consortium for Practice Improvement (PCPI), Health Level 7 (HL7), Integrating the Healthcare Enterprise (IHE), Medbiquitous, and the Health Information Technology Standards Panel (HITSP). He has been active in professional societies, including a decade on the Practice Committee, Treasurer and Member of the Board of Directors of the American Academy of Neurology (AAN). He is a member of AAN, American Medical Informatics Association, American Medical Association, Illinois State Medical Society, McHenry County Medical Society, American Academy of Pediatrics, American Association for the Advancement of Science and other organizations. He served on the ACGME Neurology Residency Review Committee and has worked with certifying boards on Maintenance of Certification technology strategies. He has taken leadership roles in retirement organizations. He is Treasurer and Board member of the Association of Retirement Organizations in Higher Education. He is President of the Northwestern Emeritus Organization, editor of their newsletter and leading their program review. He is the author of over 100 medical publications. He is Board certified in three areas: Pediatrics, Neurology and Clinical Informatics. He lives in Evanston and Woodstock, Illinois.

Present Position
Professor Emeritus of Neurology
Northwestern University Feinberg School of Medicine

Woodstock Health Information and Technology
1101 Alpine LaneWoodstock, Illinois 60098-9726
Phone: 847-494-7589
email: consulting@woodstockHIT.com
Chicago Innovation Mentors
222 Mechandise Mart Plaza; Suite 1230 @MATTERChicago, Illinois 60606
Phone: 847-494-7589

Northwestern Emeritus Organization
1800 Sherman Street, Rm 5407Evanston, Illinois 60201
Phone: 847-467-0432

Treasurer and Member of Board of Directors
Association of Retirement Organizations in Higher Education
835 West 34th Street, URC 103Los Angeles, California 90089-0751
Phone: 213-740-5037

Old Court House and Sheriff's House Advisory Commission
City HallWoodstock, Illinois 60098
email: consulting@woodstockHIT.com

Private Communications
807 Davis Street, Unit 313
Evanston, Illinois 60201
Mobile: 847 494 7589
FAX: 800 701 9821
Lifetime Email: david@stumpf.org

May 8, 1945   Los Angeles, California
United States
Spouse: Elizabeth Dusenbery Stumpf
Children:  Jennifer Gavelek, Todd Sevenz-Coleman, Shilo Walker, Kaitrin Valencia,  11 grandchildren

Education and Degrees
Board Certification
Appointments and Positions
Boards of Directors

Honors and Selective Associations and Activities
Editorial Boards
Society Membership and Activities
Examples of Domains of Professional Experience

PubMed Articles

  1. D A Stumpf, J H Austin, A C Crocker, M LaFrance,   Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome). I. Sulfatase B deficiency in tissues.  American journal of diseases of children (1960) 1973; 126:747-55  PubMed: 4271367  
  2. D A Stumpf,   Letter: The Winchester syndrome and mucopolysaccharide metabolism.  The Journal of pediatrics 1975; 86:646-7  PubMed: 123957  
  3. F A Horner, G J Myers, D A Stumpf, B J Oseroff, B H Choi,   Malignant atrophic papulosis (Kohlmeier-Degos disease) in childhood.  Neurology 1976; 26:317-21  PubMed: 944388 

    Abstract:  Malignant atrophic papulosis (Kohlmeier-Degos disease) is reported for the first time with pathologic verification of central nervous system involvement in a child. The disease began in infancy with rare recurring skin lesions; the child died at the age of 7, after progressive neurologic deterioration. Diagnosis was suspected clinically and confirmed by biopsy of a typical skin lesion. Recognition of this disorder by its dermatologic manifestations may obviate invasive diagnostic procedures.
  4. D A Stumpf, J K Parks,   Friedreich's ataxia: I. Normal pyruvate dehydrogenase complex activity in platelets.  Annals of neurology 1978; 4:366-8  PubMed: 727741  
  5. D A Stumpf, M Frost,   Seizures, anticonvulsants, and pregnancy.  American journal of diseases of children (1960) 1978; 132:746-8  PubMed: 356585  
  6. D A Stumpf, J K Parks,   Friedreich ataxia. II. Normal kinetics of lipoamide dehydrogenase.  Neurology 1979; 29:820-6  PubMed: 221857 

    Abstract:  Lipoamide dehydrogenase (LAD) kinetic values, Km and Vmax, were normal in 11 patients with Friedreich ataxia. Fibroblast activities of the pyruvate and alpha-ketoglutarate dehydrogenase complex, and LAD activities, were also normal. There was no reduction in oxidative decarboxylation of pyruvate, alpha-ketoglutarate, or several other substrates in intact fibroblasts. Methodologic differences may account for differences of opinion about putative abnormalities of the alpha-ketoacid dehydrogenase complexes.
  7. D A Stumpf, E R McCabe, J K Parks, W W Bullen, S Schiff,   Loosely coupled mitochondrial oxidative phosphorylation induced by protoporphyrin.  Biochemical medicine 1979; 21:182-9  PubMed: 465014  
  8. D A Stumpf, J McAfee, J K Parks, L Eguren,   Propionate inhibition of succinate:CoA ligase (GDP) and the citric acid cycle in mitochondria.  Pediatric research 1980; 14:1127-31  PubMed: 6780967 Grants:  HD 04024 NICHD NIH HHS; HD 08315 NICHD NIH HHS;  

    Abstract:  Propionate inhibits oxygen consumption by rat liver mitochondria when glutamate, alpha-ketaglutarate, and succinate are substrates. Carnitine prevents this effect. The pattern of inhibition of 14CO2 release from metabolic intermediates indicates citric acid cycle inhibition between succinate:coenzyme A (CoA) ligase (GDP) and malate dehydrogenase. Propionyl CoA is synthesized from propionate in mitochondria. Propionyl CoA is a potent inhibitor of succinate:CoA ligase with positive cooperativity and half half-maximal inhibition at 2 X 10(-4) M propionyl CoA.
  9. D A Stumpf, J K Parks,   Urea cycle regulation: I. Coupling of ornithine metabolism to mitochondrial oxidative phosphorylation.  Neurology 1980; 30:178-83  PubMed: 7188796 

    Abstract:  Ornithine metabolism is coupled to oxidative phosphorylation in isolated rat liver mitochondria. The pathway involving ornithine: alpha-ketoglutarate transaminase (OKT), glutamic semialdehyde dehydrogenase (GSDH), and glutamate dehydrogenase (GDH) with cycling of alpha-ketoglutarate-glutamate at the OKT reaction appears to be involved. Ornithine may be utilized by this pathway to sustain ATP levels during mitochondrial energy-deficiency states with resultant decreased urea-cycle flux and increased ammonia production. This pathophysiologic mechanism suggests that hyperammonemia is a consequence of an energy-deficiency state. Therapy directed toward alleviating the energy-deficiency state may be more beneficial than efforts to reduce ammonia levels.
  10. D A Stumpf,   The founding of pediatric neurology in America.  Bulletin of the New York Academy of Medicine 1981; 57:804-16  PubMed: 7034830  
  11. R Haas, D A Stumpf, J K Parks, L Eguren,   Inhibitory effects of sodium valproate on oxidative phosphorylation.  Neurology 1981; 31:1473-6  PubMed: 6796903 Grants:  HD 04024 NICHD NIH HHS; HD 07096-01 NICHD NIH HHS; HD 08315 NICHD NIH HHS;  

    Abstract:  Sodium valproate (VP) inhibited oxidative phosphorylation in isolated rat liver mitochondria. State 3 rates of oxygen consumption with glutamate as substrate were 80% of control values at a low VP concentration (24 microM). At 240 microM, there was more than 50% inhibition of glutamate and alpha-ketoglutarate state 3 rates. Succinate state 3 rates were 80% of control values, and uncoupling was noted at 2400 microM VP. These VP effects were similar to those of propionate and isovalerate, suggesting a common mechanism of toxicity. Inhibition of mitochondrial oxidative phosphorylation may explain why VP intoxication causes a hepatocerebral disorder that resembles Reye syndrome.
  12. D A Stumpf,   Classics in neurology: Queen Anne and the Duke of Gloucester.  Neurology 1981; 31:529  PubMed: 7015162  
  13. D A Stumpf, J K Parks,   Human mitochondrial electron transport chain: assay of succinate: cytochrome c reductase in leukocytes, platelets and cultured fibroblasts.  Biochemical medicine 1981; 25:234-8  PubMed: 6269538 Grants:  HD 04024 NICHD NIH HHS; HD 08315 NICHD NIH HHS; RR 00069 NCRR NIH HHS;   
  14. D A Stumpf, A Hayward, R Haas, M Frost, H H Schaumburg,   Adrenoleukodystrophy. Failure of immunosuppression to prevent neurological progression.  Archives of neurology 1981; 38:48-9  PubMed: 7458724 Grants:  RR-00069 NCRR NIH HHS;  

    Abstract:  Severe immunosuppression with prednisone and cyclophosphamide failed to prevent neurological progression in a patient with adrenoleukodystrophy.
  15. D A Stumpf,   Friedreich's disease: a metabolic cardiomyopathy.  American heart journal 1982; 104:887-8  PubMed: 7124609 Grants:  HD04024 NICHD NIH HHS; HD08315 NICHD NIH HHS; RR00069 NCRR NIH HHS;   
  16. S I Goodman, D O Stene, E R McCabe, M D Norenberg, R H Shikes, D A Stumpf, G K Blackburn,   Glutaric acidemia type II: clinical, biochemical, and morphologic considerations.  The Journal of pediatrics 1982; 100:946-50  PubMed: 7086597 Grants:  HD-02024 NICHD NIH HHS; HD-08315 NICHD NIH HHS; RR-69 NCRR NIH HHS;   
  17. B J Bergen, D A Stumpf, R Haas, J K Parks, L A Eguren,   A mechanism of toxicity of isovaleric acid in rat liver mitochondria.  Biochemical medicine 1982; 27:154-60  PubMed: 7082321 Grants:  HD 04024 NICHD NIH HHS; HD 07096-01 NICHD NIH HHS; HD 08315 NICHD NIH HHS;   
  18. D A Stumpf, J K Parks, L A Eguren, R Haas,   Friedreich ataxia: III. Mitochondrial malic enzyme deficiency.  Neurology 1982; 32:221-7  PubMed: 7199631 Grants:  HD04024 NICHD NIH HHS; HD07096-01 NICHD NIH HHS; HD08315 NICHD NIH HHS;  

    Abstract:  Polarographic assays of oxidative phosphorylation in muscle mitochondria indicated abnormal pyruvate-malate metabolism in Friedreich ataxia (FA). Pursuing this clue, more specific assays were performed. Mitochondrial malic enzyme (MEm; malate: NADP+ oxidoreductase) specific activity was 10% of controls in fibroblasts from eight FA patients (p less than 0.0001). Cytosolic malic enzyme was modestly increased in FA fibroblasts. Mitochondrial and cytosolic malate dehydrogenase and aspartate aminotransferase, and malate transport on the dicarboxylate and alpha-ketoglutarate carriers were normal in fibroblasts or leukocytes. MEm activity is normally highest in the nervous system and heart is important in regulating carbohydrate metabolism. MEm deficiency could cause FA; further studies are required to substantiate this hypothesis.
  19. D A Stumpf, R Haas, L A Eguren, J K Parks, R E Eilert,   Protonmotive force in muscle mitochondria.  Muscle & nerve 1982; 5:14-9  PubMed: 6276744 Grants:  HD 04024 NICHD NIH HHS; HD 07096-01 NICHD NIH HHS; HD 08315 NICHD NIH HHS;  

    Abstract:  The protonmotive force (delta p) of muscle mitochondria was measured by estimating the distribution of 14C-labeled TPMP (trimethylphenylphosphonium iodide) and 14C-labeled acetate across the inner membrane of muscle mitochondria. The matrix volume was simultaneously determined using 3H-labeled H2O and 3H-labeled mannitol and repeated drying to distinguish the label in these 2 compounds. Rapid separation of mitochondria from the incubation medium by centrifugation through silicone oil avoids the problems of potential anaerobic conditions associated with conventional centrifugation and large volumes of trapped media associated with filtration. The value for delta p (mean +/- SD) was 192+/- 26 mV in 30 determinations with rat muscle mitochondria during state 4. Measurement of oxygen consumption allowed calculation of membrane conductance (Cm,H+) which was 0.49 +/- 0.18 nmol of H+/min/mg protein/mV. The values for delta p and Cm,H+ are reported for a variety of experimental conditions and are consistent with Mitchell's chemiosmotic theory. Biopsy specimens obtained from human muscle gave state-4 delta p values of 197+/- 30 mV (n =5) and Cm,H+ values of 0.52 +/- 0.12 nmol of H+/min/mg/mV (n = 4). This delta p assay is the first described for coupled mammalian muscle mitochondria and will be useful in assessing membrane function.
  20. D A Stumpf,   Mitochondrial disorders.  Rinshō shinkeigaku = Clinical neurology 1983; 23:1046-55  PubMed: 6375929  
  21. W D Parker, R Haas, D A Stumpf, L A Eguren,   Effects of octanoate on rat brain and liver mitochondria.  Neurology 1983; 33:1374-7  PubMed: 6684238 Grants:  HD 07096 NICHD NIH HHS; HD 08315 NICHD NIH HHS;  

    Abstract:  Octanoate increased state 3 and state 4 respiration in rat liver mitochondria. The respiratory control rates decreased because state 4 was disproportionately affected. The ADP:O ratio was not affected. Octanoate produced a fall in the protonmotive force (delta p) of 30 mV during state 3 and state 4. The mitochondrial inner membrane proton conductance (Cm,H+) increased twofold during state 4. Similar effects were observed in polarographic assays of brain mitochondria, but measurements of delta p and Cm,H+ were not possible. Octanoate produces loose coupling in isolated mitochondria. This effect may play a role in the pathogenesis of Reye's syndrome.
  22. D A Stumpf, W D Parker, R Haas,   Carnitine deficiency with valproate therapy.  The Journal of pediatrics 1983; 103:175-6  PubMed: 6408234  
  23. D A Stumpf, J K Parks, W D Parker,   Friedreich's disease: IV. Reduced mitochondrial malic enzyme activity in heterozygotes.  Neurology 1983; 33:780-3  PubMed: 6682522 Grants:  HD 07096-01 NICHD NIH HHS; HDO4024 NICHD NIH HHS; HDO8315 NICHD NIH HHS;  

    Abstract:  Friedreich's disease (FD) obligate heterozygotes have reduced mitochondrial malic enzyme (MEm) activity in cultured fibroblasts. This indicates that the MEm deficiency in homozygous affected patients is genetically determined. Heterozygote MEm activity was only 20% of the control mean activity, lower than the 50% expected in an autosomal-recessive disorder. This may result from negative interactions between mutant and normal subunits in the tetrameric enzyme. These data support the idea that MEm deficiency causes FD, but further studies are required to prove this hypothesis.
  24. W D Parker, R Haas, D A Stumpf, J Parks, L A Eguren, C Jackson,   Brain mitochondrial metabolism in experimental thiamine deficiency.  Neurology 1984; 34:1477-81  PubMed: 6493495 Grants:  HD07096 NICHD NIH HHS; HD08315 NICHD NIH HHS;  

    Abstract:  Thiamine deficiency causes Wernicke's encephalopathy, although the precise mechanism is unknown. We used a low-thiamine diet in conjunction with a thiamine analog, pyrithiamine, as a model of severe thiamine deficiency in rats. We investigated the function of intact, coupled mitochondria isolated from both brain and liver. State 4 respiration did not change in the thiamine-deficient animals. Brain state 3 rates fell in thiamine-deficient animals when pyruvate/malate, alpha-ketoglutarate, or glutamate were used as substrate. Liver state 3 rates were depressed only when pyruvate/malate was substrate. Activities of brain and liver pyruvate dehydrogenase complex and alpha-ketoglutarate dehydrogenase complex were depressed in the thiamine-deficient group. We conclude that the mitochondrial abnormalities resulting from thiamine deficiency are secondary to depression of thiamine-mediated enzyme activity, rather than from a putative role of thiamine in chemiosmotic coupling, and that the resulting abnormalities in ATP synthesis and perhaps in glutamate catabolism result in the irreversible neurologic defect seen in this disease.
  25. R H Haas, D A Stumpf,   A microchamber for polarographic assay.  Biochemical medicine 1984; 32:138-43  PubMed: 6497867 Grants:  HD07096 NICHD NIH HHS; HD08315 NICHD NIH HHS; HDO4024 NICHD NIH HHS;  

    Abstract:  A glass micro-chamber which allows polarographic assay in a volume of 180 microliter is described. The conical shape of this chamber allows efficient mixing with a Teflon magnetic flea. This chamber facilitates the study of the small quantities of mitochondria obtained from human tissue biopsies or animal sources. The polarographic assay of mouse liver mitochondria is described.
  26. R Matalon, D A Stumpf, K Michals, R D Hart, J K Parks, S I Goodman,   Lipoamide dehydrogenase deficiency with primary lactic acidosis: favorable response to treatment with oral lipoic acid.  The Journal of pediatrics 1984; 104:65-9  PubMed: 6418873 

    Abstract:  An 8-month-old boy with severe lactic acidosis was found to have lipoamide dehydrogenase deficiency. Treatment with thiamine, biotin, bicarbonate, protein restriction, and ketogenic diet failed to alleviate the lactic acidosis. Oral administration of lipoic acid 25 to 50 mg/kg produced dramatic improvement in lactic and pyruvic acidemia, which has continued for 2 years and which has been accompanied by clinical improvement.
  27. D A Stumpf, L A Eguren, J K Parks,   Bilirubin increases mitochondrial inner membrane conductance.  Biochemical medicine 1985; 34:226-9  PubMed: 4084246 Grants:  HD 07096-01 NICHD NIH HHS; HD04024 NICHD NIH HHS; HD08315 NICHD NIH HHS;  

    Abstract:  Bilirubin accumulates within, and induces loose coupling in, rat liver mitochondria. This state, characterized by a normal protonmotive force, but increased oxygen consumption and inner membrane conductance, could impair cellular energy metabolism. Loose coupling is observed at bilirubin concentrations (12-24 microM) attained in tissues of kernicteric animals.
  28. M R Pranzatelli, D A Stumpf,   The metabolic consequences of experimental intraventricular hemorrhage.  Neurology 1985; 35:1299-303  PubMed: 4022375 

    Abstract:  Experimental intraventricular hemorrhage was produced by injection of autologous fresh blood (0.25 ml/kg) or artificial CSF into the right lateral ventricle of 24 dogs. A transient ventricular fluid acidosis (pH drop to 7.09) was accompanied by increased lactate, pyruvate, ammonia, and Pco2, and decreased bicarbonate and glucose. High lactate/pyruvate ratios were the most persistent abnormality. The control group, which received intraventricular artificial CSF, developed minimal ventricular fluid acidosis (pH 7.26). Lumbar CSF and venous blood acid-base parameters did not change. Simultaneous cisternal samples obtained from some of the animals reflected similar metabolic abnormalities of lesser magnitude. Intraventricular injection of sodium bicarbonate normalized the pH in four animals.
  29. D A Stumpf, W D Parker, C Angelini,   Carnitine deficiency, organic acidemias, and Reye's syndrome.  Neurology 1985; 35:1041-5  PubMed: 3892364 Grants:  HD04024 NICHD NIH HHS; HD07096-01 NICHD NIH HHS; HD08315 NICHD NIH HHS;  

    Abstract:  Relative carnitine deficiency is important in the pathophysiology of several disorders, including Reye's syndrome and organic acidemias. In acute clinical crises, carnitine serves as a "buffer," trapping toxic acyl compounds. Mitochondrial failure develops in carnitine deficiency when there is insufficient tissue carnitine available to buffer toxic acyl-CoA metabolites. Toxic levels of acyl-CoA impair the citrate cycle, gluconeogenesis, the urea cycle, and fatty-acid oxidation. Carnitine replacement therapy is safe and induces excretion of toxic acyl groups in the urine.
  30. D A Stumpf,   The inherited ataxias.  Pediatric neurology 1985; 1:129-33  PubMed: 3916902 Grants:  HD04024 NICHD NIH HHS; HD08315 NICHD NIH HHS; RR00069 NCRR NIH HHS;  

    Abstract:  Clinical, biochemical, and genetic studies have brought clarity to many issues concerning the inherited ataxias. The classification, diagnosis, and therapy of hereditary ataxias are now better understood although many questions remain. Basic defects are identified in some disorders.
  31. D A Stumpf,   The inherited ataxias.  Neurologic clinics 1985; 3:47-57  PubMed: 3921817 Grants:  HD04024 NICHD NIH HHS; HD08315 NICHD NIH HHS; RR00069 NCRR NIH HHS;  

    Abstract:  Diagnosis and classification of the inherited ataxias are reviewed with emphasis on recognizing treatable disorders. Even when basic defects are untreatable, many complications of the degenerative process are amenable to therapy.
  32. D A Stumpf,   Anticonvulsant use during pregnancy.  Clinical therapeutics 1985; 7:258-65  PubMed: 3986865 

    Abstract:  Although antiepileptic medications may play a role in fetal malformations, this risk appears no greater than the risk associated with either the seizures themselves or a change in medication during pregnancy. In general, the number and the dose of antiepileptic medications should be minimized during pregnancy. Potential complications during the pregnancy must be anticipated. Drug levels must be monitored. Because the fetus is at a somewhat higher risk, ultrasound studies may be useful in monitoring the pregnancy. Delivery should take place in a center where appropriate facilities are available if intervention is required during labor or if the baby is malformed. Both the infant and the mother should be monitored closely after the delivery.
  33. D A Stumpf,   Acute ataxia.  Pediatrics in review / American Academy of Pediatrics 1987; 8:303-6  PubMed: 3332333  
  34. D A Stumpf, R Sokol, D Bettis, H Neville, S Ringel, C Angelini, R Bell,   Friedreich's disease: V. Variant form with vitamin E deficiency and normal fat absorption.  Neurology 1987; 37:68-74  PubMed: 3796840 Grants:  RR00069 NCRR NIH HHS;  

    Abstract:  A 30-year-old woman was thought to have Friedreich's disease because of progressive ataxia, dysarthria, and titubation from age 3 years. Her diet was normal, and there were neither symptoms nor laboratory evidence of liver disease or fat malabsorption. Serum vitamin E content and the ratio of serum vitamin E to total serum lipid were very low, but serum vitamin A, cholylglycine, and lipid levels were normal, as was an oral vitamin E tolerance test. Muscle biopsy showed the lysosomal inclusions of vitamin E deficiency. Mitochondria had normal oxidative phosphorylation using polarographic assays. The cause of her vitamin E deficiency was unknown.
  35. R J Sokol, H J Kayden, D B Bettis, M G Traber, H Neville, S Ringel, W B Wilson, D A Stumpf,   Isolated vitamin E deficiency in the absence of fat malabsorption--familial and sporadic cases: characterization and investigation of causes.  The Journal of laboratory and clinical medicine 1988; 111:548-59  PubMed: 3361234 Grants:  RR00069 NCRR NIH HHS;  

    Abstract:  We observed four young adults, including three siblings, with a progressive neurologic disorder that developed over the first two decades. Electrophysiologic studies revealed mildly delayed nerve conduction, decreased amplitudes of sensory action potentials, and sensory delay in the posterior columns. Known causes of similar neurologic disorders were excluded. Although vitamin E deficiency was well documented, intestinal absorption and plasma lipoprotein transport of vitamin E were normal. Incubation studies in vitro failed to identify a plasma factor causing destruction of circulating vitamin E. There was no clinical or laboratory evidence of steatorrhea caused by gastrointestinal, hepatic, or pancreatic disease. Plasma lipoproteins, apolipoprotein B, and adipose tissue fatty acid composition were normal. Oral vitamin E therapy restored serum levels to normal and caused neurologic improvement in two patients. We postulate that an inherited defect in hepatocyte secretion of vitamin E into lipoproteins may account for this disorder, which occurs in sporadic cases as well as in siblings.
  36.  The infant with anencephaly. The Medical Task Force on Anencephaly.  The New England journal of medicine 1990; 322:669-74  PubMed: 2406598  
  37. T Matsuishi, D A Stumpf, K Chrislip,   The effect of malate on propionate mitochondrial toxicity.  Biochemical medicine and metabolic biology 1991; 46:177-84  PubMed: 1782009 

    Abstract:  Propionic acidemia occasionally produces a toxic encephalopathy resembling Reye's syndrome, indicating disruption of mitochondrial metabolism. Liver mitochondria respiratory control ratios were reduced 46% by 5 mM propionate; inhibition correlated with matrix propionyl-CoA levels. L-Malate prevented the toxic effect of propionate and reduced the propionyl-CoA matrix concentration by 62%. The beneficial effect of L-malate is apparently due to stimulation of succinate efflux because the effect is blocked by benzylmalonate, an inhibitor of the dicarboxylate carrier. Matrix concentration of label from [1-14C]propionate was not affected by L-malate and/or benzylmalonate. L-Malate may be useful in the treatment of patients with propionic acidemia.
  38. K M Gibson, W G Sherwood, G F Hoffman, D A Stumpf, I Dianzani, R B Schutgens, P G Barth, U Weismann, C Bachmann, P Schrynemackers-Pitance,   Phenotypic heterogeneity in the syndromes of 3-methylglutaconic aciduria.  The Journal of pediatrics 1991; 118:885-90  PubMed: 1710267 

    Abstract:  Combined 3-methylglutaconic and 3-methylglutaric aciduria, one of the more common urinary organic acid abnormalities, has been observed in at least three clinical syndromes. We studied an additional seven patients with 3-methylglutaconic aciduria, four of whom were best categorized as having the type II syndrome, two as having an "unspecified" syndrome, and one who may have had a primary urea cycle defect. In cultured cells and autopsy tissues derived from patients with the type II and unspecified syndromes, we were unsuccessful in identifying a defect in the leucine degradative pathway distal to 3-methylcrotonyl-coenzyme A carboxylase and in the cholesterol biosynthetic pathway between 3-hydroxy-3-methylglutaryl-coenzyme A reductase and diphosphomevalonate decarboxylase. Further assessment of the cholesterol biosynthetic pathway in several patients with one of the two types of disease also provided no defined abnormality. The primary metabolic defects in the type II and unspecified syndromes remain undefined.
  39. T Matsuishi, D A Stumpf, M Seliem, L A Eguren, K Chrislip,   Propionate mitochondrial toxicity in liver and skeletal muscle: acyl CoA levels.  Biochemical medicine and metabolic biology 1991; 45:244-53  PubMed: 1883630 

    Abstract:  Propionic acidemia occasionally produces a toxic encephalopathy resembling Reye syndrome, indicating disruption of mitochondrial metabolism. Understanding the mitochondrial effect of propionate might clarify the pathophysiology. Liver mitochondria are inhibited by propionate (5 mM) while muscle mitochondria are not. Preincubation is required to inhibit liver mitochondria, suggesting that propionate is metabolized to propionyl CoA. Liver and skeletal muscle mitochondria incubated with [1-14C]propionate contain similar quantities of matrix isotope and release comparable [14C]CO2. However, only liver mitochondria accumulated significant propionyl CoA, which was largely (68%) synthesized from propionate. Carnitine reduced the level of liver matrix propionyl CoA. Inhibition of respiratory control ratios by propionate correlated with propionyl CoA levels. These results support the hypothesis that acyl CoA esters are toxic and that carnitine exerts its protective effect by converting acyl CoA esters to acylcarnitine esters.
  40. S Al-Rajeh, O Bademosi, G G Gascon, D Stumpf,   Werdnig Hoffman's disease (spinal muscular atrophy type I): A clinical study of 25 Saudi nationals in Al-Khobar.  Annals of Saudi medicine 1992; 12:67-71  PubMed: 17589132 

    Abstract:  We describe the clinical features of 25 cases of Werdnig Hoffman's disease (spinal muscular atrophy (SMA) type I) seen propectively over a two-year period at the King Fahd Hospital of the University (KFHU), Al-Khobar. The hospital incidence rate was 1.93 per 1,000 live births (95% confidence limits, 0.80-3.06/1,000). The estimated prevalence rate for the community was 0.92/10,000 with 0.59-1.25 per 10,000 children as its 95% confidence limits. The male to female ratio was 2:3. Reduced fetal movements were reported by six mothers; 8 children (32%) had symptoms at birth, and 24 (96%) had symptoms by the time they were six months old. Other features apart from hypotonia, muscle weakness, and absent deep tendon reflexes included head lag with inability to achive head control at six months (88%), respiratory problems consisting of difficulty with breathing or frequent chest infections (44%), and difficulty with feeding (40%). Wasting with fisciculations of the tongue was seen in 64%. Death occurred within six months of presentation in 75% of the cases. The parents were consanguineous in 64% of the cases. This high consanguinity rate was probably the major cause for the high population prevalence rate.
  41. D A Stumpf,   Dr Charles F. Barlow, Bronson Crothers professor of neurology.  Journal of child neurology 1992; 7:61-5  PubMed: 1552153  
  42. D A Stumpf,   Reye syndrome: an international perspective.  Brain & development 1995; 17 Suppl:77-8  PubMed: 8882577 

    Abstract:  An international perspective of Reye syndrome provides insights not noticeable with a parochial perspective. Sources of variation in Reye syndrome include geographic factors. The disappearance of Reye syndrome occurred globally, raising doubts about the importance of regional efforts to eliminate specific putative causes.
  43. A Hentati, H X Deng, W Y Hung, M Nayer, M S Ahmed, X He, R Tim, D A Stumpf, T Siddique,  Ahmed,   Human alpha-tocopherol transfer protein: gene structure and mutations in familial vitamin E deficiency.  Annals of neurology 1996; 39:295-300  PubMed: 8602747 

    Abstract:  Familial vitamin E deficiency (AVED) causes ataxia and peripheral neuropathy that resembles Friedreich's ataxia. AVED is thought to be caused by a defect in the transport of vitamin E in liver cells, which is the probable function of alpha-tocopherol transfer protein (alphaTTP). We have cloned the cDNA and several genomic phage clones covering the entire human alphaTTP gene and determined the junctions between the five exons and four introns that composed the gene for human alphaTTP. Three mutations in three unrelated North American families with AVED were identified. Two mutations, 485delT and 513insTT, cause a frame shift and a premature stop codon and the third mutation 574G-->A would substitute Arg192 to His in alphaTTP. The 2 patients with a severe form of AVED were homozygous with 485delT and 513insTT, respectively, while the patient with a mild form of the disease was compound heterozygous with 513insTT and 574G-->A. These findings have identified the underlying genetic defect in AVED and have confirmed the role of alphaTTP in AVED.
  44. Mark S Wainwright, Marin K Mannix, Justin Brown, David A Stumpf,   L-carnitine reduces brain injury after hypoxia-ischemia in newborn rats.  Pediatric research 2003; 54:688-95  PubMed: 12904603 

    Abstract:  Perinatal hypoxia-ischemia remains a significant cause of neonatal mortality and neurodevelopmental disability. Numerous lines of evidence indicate that cerebral ischemic insults disrupt normal respiratory activity in mitochondria. Carnitine (3-hydroxy-4-N-trimethylammonium-butyrate) has an essential role in fatty acid transport in the mitochondrion and in modulating potentially toxic acyl-CoA levels in the mitochondrial matrix. There are no naturally occurring esterases available to reduce the accumulation of acyl-CoA but this process can be overcome by exogenous carnitine. We used a newborn rat model of perinatal hypoxia-ischemia to test the hypothesis that treatment with l-carnitine would reduce the neuropathologic injury resulting from hypoxia-ischemia in the developing brain. We found that treatment with l-carnitine during hypoxia-ischemia reduces neurologic injury in the immature rat after both a 7- and 28-d recovery period. We saw no neuroprotective effect when l-carnitine was administered after hypoxia-ischemia. Treatment with d-carnitine resulted in an increase in mortality during hypoxia-ischemia. Carnitine is easy to administer, has low toxicity, and is routinely used in neonates as well as children with epilepsy, cardiomyopathy, and inborn errors of metabolism. l-Carnitine merits further investigation as a treatment modality for the asphyxiated newborn or as prophylaxis for the at-risk fetus or newborn.
  45. David A Stumpf,   Symptoms of B(12) deficiency can occur in women of childbearing age supplemented with folate.  Neurology 2003; 60:353; author reply 353  PubMed: 12552069  
  46. M R Pranzatelli, A L Travelstead, E D Tate, T J Allison, E J Moticka, D N Franz, M A Nigro, J T Parke, D A Stumpf, S J Verhulst,   B- and T-cell markers in opsoclonus-myoclonus syndrome: immunophenotyping of CSF lymphocytes.  Neurology 2004; 62:1526-32  PubMed: 15136676 

    Abstract:  BACKGROUND: Although many lines of evidence suggest an autoimmune etiology, the pathophysiology of opsoclonus-myoclonus syndrome (OMS) remains poorly understood and no immunologic abnormalities have correlated with neurologic severity. Conventional immunotherapies often do not prevent relapse or permanent sequelae. OBJECTIVE: To test the cellular immune hypothesis of OMS in a cross-sectional study and determine if CSF lymphocyte subset analysis provides biomarkers of disease activity. METHODS: The expression of lymphocyte surface antigens was investigated in CSF and blood of 36 children with OMS and 18 control subjects, using a comprehensive panel of monoclonal antibodies to adhesion and activation proteins in combination with anti-CD3 and anti-CD45 antibodies in four-color fluorescence-activated cell sorting. RESULTS: Although most children with OMS had normal CSF cell counts, they exhibited expansion of CD19+ B-cell (up to 29%) and gammadelta T-cell (up to 26%) subsets and a lower percentage of CD4+ T-cells and CD4/CD8 ratio, which persisted even years after disease onset and conventional treatments. The percentage of activated CSF T-cells was also higher. Abnormalities correlated with neurologic severity, as scored blinded from videotapes using a 12-item motor scale, and disease duration. No significant differences were found between tumor and no-tumor groups. In children with neuroblastoma, tumor resection or cancer chemotherapy did not alter immunologic abnormalities. CONCLUSIONS: CSF B- and T-cell recruitment is linked to neurologic signs in pediatric OMS, which may relate to relapses and disease progression.
  47. Alexander G Bassuk, Gesina F Keating, David A Stumpf, Delilah M Burrowes, Cynthia Stack,   Systemic lymphoma mimicking acute disseminated encephalomyelitis.  Pediatric neurology 2004; 30:129-31  PubMed: 14984907 

    Abstract:  We describe a 10-year-old immunocompetent male whose initial presentation was consistent with the diagnosis of acute disseminated encephalomyelitis. He relapsed 3 months later, with new neurologic signs and lymphadenopathy. T-cell lymphoma was diagnosed by lymph node and stereotaxic brain biopsy. This patient represents a rare report of T-cell lymphoma in an immunocompetent child presenting with central nervous system symptoms.
  48. Shlomi Constantini, N Paul Rosman, Philippe Evrard, Milivoj Velickovic Perat, David A Stumpf, Victor Dubowitz,   A tribute and toast on the occasion of the retirement of Professor Shaul Harel, MD.  Journal of child neurology 2010; 25:637-43  PubMed: 20207614  
  49. David A Stumpf,   Professor Yukio Fukuyama.  Pediatric neurology 2015; 53:1-2  PubMed: 25959285  
Additional Peer Reviewed Articles

  1. J. Austin, D. Armstrong, D. Stumpf, L. Kretschmer, C. Mitchell, B. Van Zee and B. Bachhawat, Defective sulfatide synthesis in Krabbe's disease (globoid leukodystrophy).  Trans Amer Neurol Assoc 1967; 57:175-179

  2. J. Austin, D. Armstrong, S. Fouch, C. Mitchell, D. Stumpf, L. Shearer and O. Briner, Metachromatic leukodystrophy (MLD). VIII. MLD in adults: diagnosis and pathogenesis Arch Neurol  1968; 18:225-240

  3. J. Austin, D. Armstrong, D. Stumpf, T. Luttenegger and M. Dragoo, Subcellular distribution of two enzyme systems which degrade 3'-phosphoadenosine 5'-phosphosulfate ("active sulfate") Biochim Biophys Acta  1969; 192:29-36

  4. D. Armstrong, J. Austin, T. Luttenegger, B. Bachhawat and D. Stumpf, Properties and sub-cellular distribution of two sulfatases which degrade adenosine 5'-phosphosulfate Biochim Biophys Acta 1970; 198:523-537

  5. J. Austin, K. Suzuki, D. Armstrong, R. Brady, B. Bachhawat, J. Schlenker and D. Stumpf, Studies in globoid (Krabbe) leukodystrophy (GLD). V. Controlled enzymic studies in ten human cases Arch Neurol 1970; 23:502-512

  6. D. Stumpf and J. Austin, Metachromatic leukodystrophy (MLD). IX. Qualitative and quantitative differences in urinary sulfatase A in different forms of MLD Arch Neurol  1971; 24:117-124

  7. E. Neuwelt, D. Stumpf, J. Austin and P. Kohler, A monospecific antibody to human arylsulfatase A: Preparation, characterization, and significance Biochim Biophys Acta  1971; 236:333-346

  8. D. Stumpf, E. Neuwelt, J. Austin and P. Kohler, Metachromatic leukodystrophy (MLD). X. Immunological studies of arylsulfatase A in MLD Arch Neurol 1971; 25:427-431

  9. D. Stumpf, E. Neuwelt, J. Austin and P. Kohler, studies of sulfatase A in normals and in metachromatic leukodystrophy Trans Amer Neurol Assoc 1971; 96:80-83

  10. D.Stumpf, Biochemical and Immunological Studies of Sulfatases in Normal and Metachromatic Leukodystrophy Patients Ph.D. Thesis, Xerox, University Microfilms, Ann Arbor 1972; :

  11. D. Stumpf and J. Austin, Sulfatase B deficiency in the Maroteaux-Lamy syndrome (mucopolysaccharidosis VI) Trans Amer Neurol Assoc 1972; 97:29-32

Other Publications

  1. R. Haas and D.A. Stumpf, Mitochondrial mechanisms in Reye-like syndrome, I. Hyperammonemia, II. Organic acids  J Natl Reye's Syndrome Foundation .  vol. 2;  p. 61-69; 1981;   

  2. D.A.Stumpf, Ask the Experts. Questions and Answers on Friedreich's Ataxia  MDA Newsmagazine.  vol. IV(1);  p. 25-27;  1987  

  3. D.A. Stumpf (Chairperson), et al., Neurofibromatosis NIH Consensus Statement  .  vol. 6 No 12;     July 13-15, 1987 

  4. D.A. Stumpf, The Neurology of Folate and Vitamin B12, 1997. Prepared for the American Academy of Neurology Practice Committee and submitted on their behalf to the Institute of Medicine committee considering folate supplementation of foods  .       Link

  5. D. Stumpf and J. Austin, Qualitative and quantitative differences in sulfatase A in different forms of classical metachromatic leukodystrophy  Lipid Storage Diseases. J. Bernsohn and H. Grossman, eds.,  p. 203-221; Academic Press; New York 1971 

  6. E. Neuwelt, D. Stumpf, J. Austin and P. Kohler, Recent advances in metachromatic leukodystrophy  Sphingolipids, Sphingolipidoses and Allied Disorders, Proceedings of the Symposium on Sphingolipidoses and Allied Disorders. B.W. Volk and S.M. Aronson, eds.,  p. 425-428; Plenum Press; New York 1971 

  7. D. Stumpf, Degenerative disorders  Principles of Pediatrics. R. Hoekelman, S. Blatman, P.A. Brunell, S.B. Friedman and H.M. Seidel, eds.,  p. 942; McGraw-Hill;  1978 

  8. D.A. Stumpf, Friedreich's Ataxia and other hereditary ataxias  Current Neurology. H.R. Tyler and D.M. Dawson, eds., vol. 1;  p. 86-111; Houghton-Mifflin Professional Publishers; Boston 1978 

  9. D.A. Stumpf, Hereditary Ataxias Update  Current Neurology. H.R. Tyler and D.M. Dawson, eds., vol. 2;  p. 150-153; Houghton-Mifflin Professional Publishers; Boston 1979 

  10. D.A. Stumpf, Mitochondrial Multisystem Disorders Clinical, Biochemical and Morphological Features  Current Neurology. H.R. Tyler and D.M. Dawson, eds., vol. 2;  p. 117-149; Houghton-Mifflin Professional Publishers; Boston 1979 

  11. D.A. Stumpf, Classics in Neurology: Cerebellar Seizures  Neurology.  vol. 30;  p. 1192;   1980 

  12. D.A. Stumpf, Atassia di Friedreich  Distrofia Muscolare alla ricerca di nuove frontiere. C. Angelini, eds.,  p. 82-84; Ferrari Foundation;  1981 

  13. G. Nellhaus, D.A. Stumpf, and P.G. Moe, Neurologic and Muscular Disorders  Current Pediatric Diagnosis and Treatment, 7th ed.. C.H. Kempe, H.K. Silver, D. O'Brien, eds.,  p. 549-624; Lange Medical Publishers; Los Altos, Calif 1982 

  14. D.A. Stumpf, Atactic syndromes  Pediatrics 17th Edition. A.M. Rudolph, eds.,  p. 1773-1777; Appleton-Century-Crofts Medical/Nursing Publishers; Norwalk, Connecticut 1982 

  15. D.A. Stumpf, Cerebellar Diseases  The Clinical Neurosciences. R.N. Rosenberg, eds.,  p. I:975-I:987; Churchill Livingstone; New York 1983 

  16. D.A. Stumpf and W.D. Parker, Jr., The biochemistry of Friedreich's disease  Neuromuscular Diseases. G. Serratrice, D. Cros, C. Desneulle, J.-L. Gastaut, J.-F. Pellissier, J. Pouget, and A.Schiano,, eds.,  p. 101-104; Raven Press; New York 1984 

  17. G. Nellhaus, D.A. Stumpf, and P.G. Moe, Neurologic and Muscular Disorders  Current Pediatric Diagnosis and Treatment, 8th ed.. C.H. Kempe, H.K. Silver, D. O'Brien, eds.,  p. 628-711; Lange Medical Publishers; Los Altos, Calif 1984 

  18. D.A. Stumpf, The Inherited Ataxias  Neurological Clinics.  vol. 2;  p. 47-57;   1985 

  19. D.A. Stumpf, Pathophysiology and Therapy of Mitochondrial Disorders  Reye's Syndrome IV. M. Pollack, eds.,  p. 248-259;   1985 

  20. D.A. Stumpf, Acute Ataxia  Current Pediatric Therapy. S. Gilles, eds., vol. 12;  p. 68-70; W.B. Saunders; Philadelphia 1985 

  21. D.A. Stumpf, A.K. Poznanski, S. Young, D.E. Weese-Mayer, Clinical Pathologic Conference Grand Rounds, Spring 1986  The Child's Doctor. J.G. Raffensberger and J.A. Stockman, eds., vol. 3(2);  p. 10-14; The Children's Memorial Hospital; Chicago 1986 

  22. D.A. Stumpf, Ataxic syndromes  Pediatrics 18th Edition. A.M. Rudolph, eds.,  p. 1754-1757; Appleton and Lange; Norwalk, Connecticut 1987 

  23. D.A. Stumpf:, Acute Ataxia  Pediatrics in Review.  vol. 8(10);  p. 303-306;   1987 

  24. D.A. Stumpf, Treatment of Neurologic Degenerative Disorders  Int Pediatrics. O. Papazian, eds., vol. 2(2);  p. 109-114;   1987 

  25. D.A. Stumpf, The Inherited Ataxias  Int Pediatrics .  vol. 2;  p. 146-148;   1987 

  26. G. Nellhaus, D.A. Stumpf, P.G. Moe, Neurologic and Muscular Disorders  Current Pediatric Diagnosis and Treatment, 9th Edition. C.H. Kempe, H.K. Silver, D. O'Brien, and V.A. Fulginiti, eds.,  p. 645-729; Lange Medical Publishers; Los Altos, California 1987 

  27. D.A. Stumpf (Chairperson), et al., NIH Consensus Statement on Neurofibromatosiss  Arch Neurol .  vol. 45;  p. 575-578;   1988 

  28. D.A. Stumpf, Cerebellar Disorders  Principles of Pediatric Neurology. K. Swaiman, eds.,  p. 219-224;   1989 

  29. D.A. Stumpf: Task Force on Brain Death in Children,   Brain Death in Children. H.H. Kaufman, eds.,   Plenum Press;  1989 

  30. D.A. Stumpf, Ataxic syndromes  Pediatrics 19th Edition. A.M. Rudolph, eds.,   Appleton and Lange; Norwalk, Connecticut 1990 

  31. D.A. Stumpf, C.F. Barlow, Randolph K. Byers 1896-1988 [Eulogy]  J Child Neurol.  vol. 5;  p. 170-171;   1990 

  32. D.A. Stumpf, Bernard Sachs  Founders of Child Neurology. S. Ashwal, eds.,  p. 563-576; Norman Publishing Co.;  1990 

  33. D.A. Stumpf, Nicholas Friedreich  Founders of Child Neurology. S. Ashwal, eds.,  p. 253-259; Norman Publishing Co.;  1990 

  34. D.A. Stumpf, Cerebellar Diseases  Comprehensive Neurology. R.N. Rosenberg, eds.,  p. 833-843; Raven Press; New York 1991 

  35. D.A. Stumpf, Spinocerebellar degenerations  Prognosis of Neurological Disorders. R. W. Evans, D.S. Baskin, F. M. Yatsu,, eds.,  p. 479-482;  Oxford Press 1992 

  36. D.A. Stumpf, Anencephalic infants as organ sources: Ethical issues  Perinatal Neurology. Fukuyama Y, Suzuki Y, Kamoshita S, Casaer P, eds.,  p. 340-345; Krager; Basel 1992 

  37. D.A. Stumpf, Symposium on Ethical Issues in Child Neurology  Perinatal Neurology. Fukuyama Y, Suzuki Y, Kamoshita S, Casaer P, eds.,  p. 367-370; Krager; Basel 1992 

  38. D.A. Stumpf, Reye's Syndrome  Current Therapy in Neurological Diseases. R.T. Johnson, J.W. Griffin, eds.,  p. 323-325 ; D. C. Decker (Mosby-Year Book);  1993 

  39. D.A. Stumpf and K. Watanabe, A tribute in San Francisco [Prof Yukio Fukuyama]  Brain and Development.  vol. 17 (Suppl);  p. 8-10;   1995 

  40. D.A. Stumpf, Reye's syndrome, an international perspective  Brain and Development .  vol. 17 (Suppl);  p. 77-78;   1996 

  41. D.A. Stumpf, Ataxic syndromes  Pediatrics 20th Edition. A.M. Rudolph, Julien I. E. Hoffman, Colin D. Rudolph, eds.,  p. 2057-2061; Appleton and Lange; Stamford, Connecticut 1996 

  42. D.A. Stumpf, Adverse Intrauterine Drug Effects on the Developing Brain  Fetal and Neonatal Physiology. R.A. Polin and W. W. Fox, eds.,   W.B. Saunders Co;  1997 

  43. D.A. Stumpf, Sachs, Bernard  Encyclopedia of the Neurological Sciences. M. J. Aminoff and R. B. Daroff , eds., vol. 4;  p. 197-198; Academic Press;  2003 

  44. National Quality Forum Coordination of Care Steering Committee (D.A. Stumpf, member),   Endorsing Preferred Practices and Performance Measures for Measuring and Reporting Care Coordination: A Consensus Report (Draft Report).   National Quality Forum;  2009  Link

  45. National Quality Forum Health Information Expert Panel, Quality Data Standards Workgroup (D.A. Stumpf, member),   Health IT Enablement of Quality Measurement – the Quality Data Set (QDS) and Dataflow.   National Quality Forum;  2009  Link

  46. National Quality Forum Health Information Technology Utilization Expert Panel, (D.A. Stumpf, member),   Driving Quality-A Health IT Assessment Framework for Measurement.   National Quality Forum;  2010 

  47. National Quality Forum Health Information Technology Utilization Expert Panel, (D.A. Stumpf, member),   Quality Data Model Overview, Version 3.0 (draft; public comment version).   National Quality Forum;  2011 

Task Forces, Workgroups and Committees
(see also Society activities)©2013-2017 David A Stumpf, Evanston and Woodstock, Illinois