Clinical variability in 3-hydroxy-2-methylbutyryl-CoA dehydrogenase deficiency

Annals of Neurology

Volumn 51, Issue 5, 2002, Pages 656-659

  Ensenauer, Regina ^a,c   Niederhoff, Helmut ^a   Ruiter, Jos P N ^b   Wanders, Ronald J A ^b   Otfried Schwab, K ^a   Brandis, Matthias ^a   Lehnert, Willy ^a  

^a UNIVERSITY OF FREIBURG   (Germany)

^b UNIVERSITY OF AMSTERDAM   (Netherlands)

^c MAYO CLINIC   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

3 HYDROXY 2 METHYLBUTYRYL COENZYME A DEHYDROGENASE; ACETYL COENZYME A ACYLTRANSFERASE; ISOLEUCINE; OXIDOREDUCTASE; UNCLASSIFIED DRUG;

AMINO ACID METABOLISM; ARTICLE; CASE REPORT; CLINICAL FEATURE; DEGENERATIVE DISEASE; DIET RESTRICTION; ENZYME DEFICIENCY; FEMALE; HUMAN; MALE; PRIORITY JOURNAL; PSYCHOMOTOR RETARDATION; SCHOOL CHILD;

ALCOHOL OXIDOREDUCTASES; AMINO ACID METABOLISM, INBORN ERRORS; CHILD; FEMALE; HUMANS; ISOLEUCINE; MALE;

EID: 0036232067     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/ana.10169     Document Type: Article

References (7)

1. Short-chain 3-hydroxy-2-methylacyl-CoA dehydrogenase from rat liver: Purification and characterization of a novel enzyme of isoleucine metabolism
2. 3-Oxothiolase activities and [14C]-2-methylbutanoic acid incorporation in cultured fibroblasts from 13 cases of suspected 3-oxothiolase deficiency
3. Urinary excretion of 2-methylacetoacetate, 2-methyl-3-hydroxybutyrate and tiglylglycine after isoleucine loading in the diagnosis of 2-methylacetoacetyl-CoA thiolase deficiency
4. Progressive infantile neurodegeneration caused by 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency: A novel inborn error of branched-chain fatty acid and isoleucine metabolism
5. The clinical phenotype and outcome of mitochondrial acetoacetyl-CoA thiolase deficiency (betaketothiolase or T2 deficiency) in 26 enzymatically proved and mutation-defined patients
6. 3-Ketothiolase deficiency: A review and four new patients with neurologic symptoms
7. 2-Methylbutyrylconenzyme A dehydrogenase deficiency: A new inborn error of L-isoleucine metabolism