Article
Biochemical, pathologic and behavioral analysis of a mouse model of glutaric acidemia type I.
Human molecular genetics - 15 Feb 2002
Koeller David M, Woontner Michael, Crnic Linda S, Kleinschmidt-DeMasters Bette, Stephens Janet, Hunt Edgar L, Goodman Stephen I
Abstract excerpt
Glutaric acidemia type I (GA-I) is an autosomal recessive disorder of amino acid metabolism resulting from a deficiency of glutaryl-CoA dehydrogenase (GCDH). Patients accumulate glutaric acid (GA) and 3-OH glutaric acid (3-OHGA) in their blood, urine and CSF. Clinically, GA-I is characterized by macrocephaly, progressive dystonia and dyskinesia. Degeneration of the caudate and putamen of the basal ganglia,...
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