Spastic diplegia and periventricular white matter abnormalities in 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, a defect of isoleucine metabolism: Differential diagnosis with hypoxic-ischemic brain diseases

Molecular Genetics and Metabolism

Volumn 81, Issue 4, 2004, Pages 295-299

  Poll The, Bwee Tien ^a   Wanders, Ronald J A ^a   Ruiter, Jos P N ^a   Ofman, Rob ^a   Majoie, Charles B L M ^a   Barth, Peter G ^a   Duran, Marinus ^a  

^a UNIVERSITY OF AMSTERDAM   (Netherlands)

Author keywords

Fatty acids; Organic aciduria; Periventricular leukomalacia; Spastic diplegia

Indexed keywords

2 METHYL 3 HYDROXYBUTYRATE; 2 METHYL 3 HYDROXYBUTYRYL COA DEHYDROGENASE; ACETYL COENZYME A ACYLTRANSFERASE; BUTYRIC ACID DERIVATIVE; ENZYME; FATTY ACID; GLYCINE DERIVATIVE; ISOLEUCINE; UNCLASSIFIED DRUG;

2 METHYL 3 HYDROXYBUTYRYL COA DEHYDROGENASE DEFICIENCY; ADULT; ARTICLE; BRAIN DISEASE; BRAIN HYPOXIA; BRAIN ISCHEMIA; CASE REPORT; COGNITIVE DEFECT; DEVELOPMENTAL DISORDER; DIFFERENTIAL DIAGNOSIS; ENZYME ACTIVITY; ENZYME DEFICIENCY; FATTY ACID OXIDATION; FIBROBLAST; GENE MUTATION; HUMAN; KETOACIDOSIS; LYMPHOCYTE; MALE; METABOLIC DISORDER; METABOLITE; MOTOR DYSFUNCTION; NUCLEAR MAGNETIC RESONANCE IMAGING; OCCIPITAL LOBE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN DEGRADATION; SEQUENCE ANALYSIS; SPASTIC DIPLEGIA; SPASTICITY; URINARY EXCRETION; WHITE MATTER; X CHROMOSOME;

ABNORMALITIES, MULTIPLE; ALCOHOL OXIDOREDUCTASES; AMINO ACID METABOLISM, INBORN ERRORS; ANOXIA; CEREBRAL PALSY; DIAGNOSIS, DIFFERENTIAL; DNA MUTATIONAL ANALYSIS; HUMANS; INFANT; INFANT, NEWBORN; ISOLEUCINE; LEUKOMALACIA, PERIVENTRICULAR; MAGNETIC RESONANCE IMAGING; MALE; MUTATION;

RAPHIA FRATER;

EID: 1842575829     PISSN: 10967192     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ymgme.2003.11.013     Document Type: Article

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