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  • Title: Glutaric aciduria type I: a serious pitfall if diagnosed too late.
    Author: Pfluger T, Weil S, Muntau A, Willemsen UF, Hahn K.
    Journal: Eur Radiol; 1997; 7(8):1264-6. PubMed ID: 9377513.
    Abstract:
    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.
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