Glutaric Aciduria Type I (GA-I) is a rare inherited metabolic disorder of amino acid catabolism. It can be diagnosed by a number of laboratory tests.
Testing may be done:
(1) as part of newborn screening, with elevation of glutarylcarnitine (C5DC)
(2) based on suggestive clinical and/or radiological findings
Further testing is done if there is elevation of 3-hydroxyglutaric acid and glutaric acid.
Diagnosis is made with one of the following:
(1) 2 disease-causing mutations in GCDH gene mutation analysis
(2) low or deficient glutaryl-CoA dehydrogenase activity in leukocytes or fibroblasts
