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Mendel Tuchman, MD
(MHBD) 2-Methyl-3-Hydroxybutyrl CoA Dehydrogenase deficiency
(2MBCD) 2-Methylbutyryl-CoA Dehydrogenase Deficiency
(HMG) 3-hydroxy-3 -methylglutaryl-CoA lyase deficiency
(3-MCC) 3-methylcrotonyl- CoA carboxylase deficiency
(MGA) 3-Methylglutaconic acidemia or 3-Methylglutaconyl-CoA Hydratase Deficiency
5-oxoprolinemia
(D2-HGA) D-2 Hydroxyglutaric Aciduria
(GA-I) Glutaryl CoA Dehydrogenase Deficiency Type I aka Glutaric Acidemia Type I
(ICBD) Isobutyryl-CoA Dehydrogenase Deficiency 3-Hydroxyisobutyric aciduria
(IVA) Isovaleryl CoA Dehydrogenase Deficiency aka Isovaleric Acidemia
(L2HGA) L-2-Hydroxy- glutaricaciduria
(MA) Malonyl-CoA Decarboxylase Deficiency aka Malonic Acidemia
(MMA) Methlymalonic Acidemia
(BKT) Mitochondrial Acetoacetyl CoA Thiolase- (3-Ketothiolase)
(MCD, holocarboxylase synthetase) Multiple carboxylase deficiency
(PA) Propionyl CoA Carboxylase Deficiency aka Propionic Acidemia
(HIBCH) 3-Hydroxyisobutyryl-CoA Hydrolase Deficiency

Dr. Tuchman's Biographical Sketch

Mendel Tuchman, MD, is the Vice Chairman for Research, Scientific Director, Children's Research Institute and Professor of Pediatrics, Biochemistry & Molecular Biology at Children's National Medical Center in Washington, DC. 

He is also the past-president of the Society of Inherited Metabolic Disorders.

His research is supported by NIH grants, philanthropy and he holds the Mary Elizabeth McGehee Joyce Chair in Genetic Medicine at Children's Research Institute.

 

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