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

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