Condition Description: GA-1 is caused by a defect of glutaryl-CoA dehydrogenase which limits the metabolism of glutaryl-CoA to crotonyl-CoA, resulting in increased glutaric acid or its metabolites that are toxic.
YOU SHOULD TAKE THE FOLLOWING ACTIONS:
Urine organic acid analysis should be ordered promptly, and will be diagnostic if it shows increased 3-hydroxyglutaric acid with or without increased glutaric acid. If urine organic acids don’t confirm the diagnosis, the metabolic specialist will consider analyzing glutarylcarnitine in urine and 3-hydroxyglutaric acid in blood and CSF, enzyme assay in fibroblasts, and molecular analysis of the GCDH gene.
The neonate with glutaric acidemia type I is usually macrocephalic but otherwise asymptomatic. Later signs include metabolic ketoacidosis, failure to thrive, and sudden onset of dystonia and athetosis due to irreversible striatal damage. With appropriate treatment, 60-70% of patients will not suffer neurodegenerative disease.