Atypical and variable clinical presentation of glutaric aciduria type I

Neuropediatrics

Volumn 31, Issue 6, 2000, Pages 303-306

  Zafeiriou, D I ^a   Zschocke, J ^a   Augoustidou Savvopoulou, P ^a   Mauromatis, I ^a   Sewell, A ^a   Kontopoulos, E ^a   Katzos, G ^a   Hoffmann, G F ^a  

^a Child Neurologist   (Greece)

Author keywords

Asymptomatic; Dystonic tetraplegia; Glutaric aciduria type I; Glutaryl CoA dehydrogenase deficiency; Leukodystrophy; Monozygotic twins; Mutation

Indexed keywords

CARNITINE; GLUTARIC ACID; GLUTARYL COENZYME A DEHYDROGENASE;

ARTICLE; CARNITINE DEFICIENCY; CASE REPORT; CHILD; GENE MUTATION; GLUTARIC ACIDURIA TYPE 1; HUMAN; HYPOGLYCEMIA; INBORN ERROR OF METABOLISM; LEUKODYSTROPHY; MISSENSE MUTATION; MONOZYGOTIC TWINS; MOTOR DYSFUNCTION; NEURORADIOLOGY; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL;

AMINO ACID METABOLISM, INBORN ERRORS; CEREBRAL CORTEX; CHILD; CHILD, PRESCHOOL; FEMALE; GLUTARATES; GLUTARYL-COA DEHYDROGENASE; HUMANS; INFANT; MAGNETIC RESONANCE IMAGING; MALE; NERVOUS SYSTEM DISEASES; OXIDOREDUCTASES; OXIDOREDUCTASES ACTING ON CH-CH GROUP DONORS; PHENOTYPE; POINT MUTATION; TWINS, MONOZYGOTIC;

EID: 0034469245     PISSN: 0174304X     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-2000-12943     Document Type: Article

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