Glutaryl-CoA dehydrogenase deficiency

Orpha code: 25OMIM code: 231670

Definition

Glutaryl-CoA dehydrogenase (GCDH) deficiency (GDD) is an autosomal recessive neurometabolic disorder clinically characterized by encephalopathic crises resulting in striatal injury and a severe dystonic dyskinetic movement disorder.

Disease data
Classification

Disease

Synonyms
GA1
Acyduria glutarowa typu 1
GA1
GCDHD
Kwasica glutarowa typu 1
Niedobór dehydrogenazy glutarylo-koenzymu A
GCDHD
Glutaric acidemia type 1
Glutaric aciduria type 1
Glutaryl-coenzyme A dehydrogenase deficiency
ORPHA code
25
OMIM code
231670
ICD10 code
E72.3
ICD11 code
5C50.E1

No additional description.

Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl