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.
Pfluger
T
T
Department of Radiology, Klinikum Innenstadt, University of Munich, Ziemssenstrasse 1, D-80 336 Munich, Germany.
Weil
S
S
Muntau
A
A
Willemsen
U F
UF
Hahn
K
K
D001284:Atrophy; D001921:Brain / Q000000981:diagnostic imaging / Q000473:pathology*; D001925:Brain Damage, Chronic / Q000175:diagnosis* / Q000209:etiology; D002675:Child, Preschool; D003937:Diagnosis, Differential; D005260:Female; D005808:Genes, Recessive; D005977:Glutarates / Q000652:urine*; D050770:Glutaryl-CoA Dehydrogenase; D006801:Humans; D006849:Hydrocephalus / Q000209:etiology; D008279:Magnetic Resonance Imaging; D008297:Male; D008661:Metabolism, Inborn Errors / Q000175:diagnosis*; D010088:Oxidoreductases / Q000172:deficiency*; D044925:Oxidoreductases Acting on CH-CH Group Donors; D014057:Tomography, X-Ray Computed
D005977:Glutarates; D010088:Oxidoreductases; D044925:Oxidoreductases Acting on CH-CH Group Donors; D050770:Glutaryl-CoA Dehydrogenase; C035736:glutaric acid