Adult onset glutaric aciduria type I presenting with a leukoencephalopathy.
Glutaric aciduria type I usually presents with an acute metabolic crisis during infancy. The authors report a previously healthy 19-year-old woman who presented with recurrent headaches, oculomotor symptoms, and a severe leukoencephalopathy on MRI. The diagnosis was made by urinary organic acid analysis and confirmed by enzyme studies. Genetic analysis revealed compound heterozygosity with a deletion c.219delC in exon 3 and a novel missense mutation R132G in exon 5 of the glutaryl CoA dehydrogenase (GCDH) gene.
Bähr
O
O
Department of Neurology, University Hospital, Tübingen, Germany.
Mader
I
I
Zschocke
J
J
Dichgans
J
J
Schulz
J B
JB
D000328:Adult; D000592:Amino Acid Metabolism, Inborn Errors / Q000235:genetics / Q000473:pathology* / Q000652:urine*; D001921:Brain / Q000473:pathology*; D002331:Carnitine / Q000627:therapeutic use; D004569:Electroencephalography; D004591:Electrophoresis, Polyacrylamide Gel; D005091:Exons / Q000235:genetics; D005260:Female; D008401:Gas Chromatography-Mass Spectrometry; D005977:Glutarates / Q000652:urine*; D050770:Glutaryl-CoA Dehydrogenase; D006801:Humans; D008279:Magnetic Resonance Imaging; D020125:Mutation, Missense / Q000235:genetics; D009422:Nervous System Diseases / Q000188:drug therapy / Q000473:pathology* / Q000652:urine*; D009483:Neuropsychological Tests; D010088:Oxidoreductases / Q000172:deficiency* / Q000235:genetics*; D044925:Oxidoreductases Acting on CH-CH Group Donors; D017384:Sequence Deletion / Q000235:genetics
D005977:Glutarates; D010088:Oxidoreductases; D044925:Oxidoreductases Acting on CH-CH Group Donors; D050770:Glutaryl-CoA Dehydrogenase; C035736:glutaric acid; D002331:Carnitine