glutaryl-CoA dehydrogenase deficiency
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.
MONDO:0000129
glutaric aciduria
is_a
MONDO:0000688
inborn organic aciduria
is_a
MONDO:0100545
hereditary neurological disease
is_a
GA1
exact
GCDHD
exact
glutaric acidemia 1
related
glutaric acidemia type 1
exact
glutaric acidemia type I
related
glutaric aciduria type 1
exact
glutaric aciduria, type 1
exact
glutaricaciduria, type I
exact
glutaryl-CoA dehydrogenase deficiency
exact
glutaryl-coenzyme A dehydrogenase deficiency
exact