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glutaryl-CoA dehydrogenase deficiency

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description 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.
Uniprot Description An autosomal recessive metabolic disorder characterized by progressive dystonia and athetosis due to gliosis and neuronal loss in the basal ganglia.
Mondo Term and Equivalent IDs
MONDO:0009281:  glutaryl-CoA dehydrogenase deficiency
DOID:0111254: 
GARD:0006522: 
MESH:C536833: 
NCIT:C99101: 
Orphanet:25: 
SCTID:76175005: 
UMLS:C0268595: