2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency: Impaired catabolism of isoleucine presenting as neurodegenerative disease

Brain and Development

Volumn 26, Issue 1, 2004, Pages 12-14

  Sass, Jörn Oliver ^a,b   Forstner, Rosemarie ^c   Sperl, Wolfgang ^c  

^a UNIVERSITY OF FREIBURG   (Germany)

^b Univ Klin F Kinder J   (Austria)

^c Salzburger Landeskliniken   (Austria)

Author keywords

2 Methyl 3 hydroxy butyric acid; 2 Methyl 3 hydroxy butyryl CoA dehydrogenase; 2 Methyl acetoacetyl CoA thiolase; Beta ketothiolase; Brain atrophy; Isoleucine; Ketolysis; Tiglyl glutamic acid; Tiglyl glycine

Indexed keywords

2 METHYL 3 HYDROXYBUTYRYL COENZYME A DEHYDROGENASE; COENZYME A; ISOLEUCINE; OXIDOREDUCTASE; UNCLASSIFIED DRUG;

2 METHYL 3 HYDROXYBUTYRYL COENZYME A DEHYDROGENASE DEFICIENCY; ARTICLE; BASAL GANGLION; BRAIN ATROPHY; BRAIN DEVELOPMENT; CASE REPORT; CATABOLISM; DEGENERATIVE DISEASE; ENZYME DEFICIENCY; ENZYME SPECIFICITY; HUMAN; METABOLIC DISORDER; NEWBORN;

EID: 0345830473     PISSN: 03877604     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0387-7604(03)00071-8     Document Type: Article

References (8)

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