Glutaric aciduria type I: a serious pitfall if diagnosed too late.

We report the MR imaging findings in two children with glutaric aciduria type I (GA I). It is important to consider this disorder in the differential diagnosis in a child presenting with an unclear hydrocephalus or atrophy. The imaging findings consist of basal ganglia changes, frontotemporal atrophy, and retarded myelination. A definite diagnosis with an urine test and a dietary treatment can avoid encephalopathy with irreversible changes.