glutaric acidemia I

An organic acidemia characterized by impaired lysine, hydroxylysine, and tryptophan metabolism, increased urinary excretion of glutaric acid, and accumulation of 3-hydroxyglutaric and glutaric acid, resulting in striatal injury and a severe dystonic dyskinetic

An organic acidemia characterized by impaired lysine, hydroxylysine, and tryptophan metabolism, increased urinary excretion of glutaric acid, and accumulation of 3-hydroxyglutaric and glutaric acid, resulting in striatal injury and a severe dystonic dyskinetic movement disorder that has_material_basis_in homozygous or compound heterozygous mutation in the GCDH gene on chromosome 19p13.

Signs and symptoms

• Elevated urine 3-hydroxyglutaric level
• Reduced peroxisomal glutaryl-CoA oxidase activity
• Elevated circulating glutarylcarnitine concentration
• Glutaric aciduria
• Subdural hemorrhage
• Enlarged sylvian cistern
• Inability to walk
• Absent speech
• Dystonia
• Macrocephaly

Also known as: GA1; glutaric academia type 1; glutaric aciduria 1; glutaric aciduria type I; glutaryl-coA dehydrogenase deficiency