Glutaric Acidemia I (GA I) is an autosomal recessive neurometabolic disorder caused by the deficiency of glutaryl-CoA dehydrogenase enzyme. GA I is clinically characterized by progressive macrocephaly and muscle hypotonia in pre encephalopathic children followed by acute encephalopathy during infancy or early childhood. The latter results in acute striatal degeneration and, consequently, in severe dystonic dyskinetic movement disorder. This distinct neuropathology exceptionally presents with classical metabolic symptoms, such as hypoglycemia or acidosis.
GA I is caused by mutations in the GCDH (glutaryl-CoA dehydrogenase) gene.