VARIABLE CLINICAL AND BIOCHEMICAL PRESENTATION OF 7 SPANISH CASES WITH GLUTARYL-COA-DEHYDROGENASE DEFICIENCY

In this report, we describe seven new patients with a severe deficienc y of glutaryl-CoA dehydrogenase in cultured skin fibroblasts. Three of the patients studied excreted high levels of glutaric acid. The remai ning four patients presented a lack of significant glutaric aciduria. However, glutaric acid was found in increased levels in CSE In both gr oups of patients, the urine glutaric acid levels were not related to t heir metabolic condition at the time of sampling. Hypocarnitinemia was a common finding. Some patients also showed defects an respiratory ch ain complexes Abbreviations In muscle biopsy. Only one patient has a n ormal psychomotor development. The other six patients are severely han dicapped despite the attempts of different therapies. In patients with progressive neurological deterioration with dystonia and cerebellar s igns associated with temporal lobe atrophy and bilateral basal ganglia damage on MRI, a glutaric aciduria type I (GA I) should always be inv estigated. The presence of glutaric acid in body fluids, especially in CSF, as well as plasma carnitine levels, should be determined. These procedures can lead to the diagnosis of glutaric aciduria type I.