Glutaric aciduria Type 1. An atypical presentation together with some observations upon treatment and the possible cause of cerebral damage

This report describes an infant diagnosed aged twenty-five months as having glutaric aciduria Type 1 (GA 1). Initial presentation was with isolated macrocephaly at four months of age. Severe hypertonia, and dystonia, within 24 hours of minor head injury occurred at nineteen months of age. Serial cranial imaging showed subdural fluid collections, and increasing underlying cerebral atrophy, mainly frontal and temporal. Confirmation of the clinical diagnosis required repeated blood and urine analysis by high performance liquid chromatography and gas chromatography/mass spectrometry; diagnosis was later confirmed enzymologically. Treatment with riboflavin, L-carnitine, vigabatrin and baclofen, produced some symptomatic relief; a low protein diet, nitrazepam and sodium valproate appeared of less obvious use. The rationale for these attempts at treatment is discussed. The possible role of quinolinic acid in the genesis of the fronto temporal and striatal atrophy is discussed and measurement of the quinolinate concentration in cerebrospinal fluid (CSF) of this case and age-related controls is presented.