Background: Glutaric aciduria type 1(GA-1) is an inherited cerebral organic aciduria.
Untreated patients with GA-1 have a risk of acute encephalopathic crises during the first
6 years of life. In so far as GA-1 desperately does not exist in Turkish newborn screening
(NBS) program, most patients in our study were late-diagnosed. /
Method: This study included 41 patients diagnosed with acylcarnitine profile, urinary
organic acids, mutation analyses in the symptomatic period. We presented with
clinical, neuroradiological, and molecular data of our 41 patients. /
Results: The mean age at diagnosis was 14.8 13.9 (15 days to 72 months) and, high
blood glutaconic acid, glutarylcarnitine and urinary glutaric acid (GA) levels in 41
patients were revealed. Seventeen different mutations in the glutaryl-CoA dehydrogenase gene were identified, five of which were novel. The patients, most of whom were
late-diagnosed, had a poor neurological outcome. Treatment strategies made a little
improvement in dystonia and the frequency of encephalopathic attacks. /
Conclusion: All GA-1 patients in our study were severely affected since they were latediagnosed, while others show that GA-1 is a treatable metabolic disorder if it is
diagnosed with NBS. This study provides an essential perspective of the severe impact
on GA-1 patients unless it is diagnosed with NBS. We immediately advocate GA-1 to be
included in the Turkish NBS
