Adult onset glutaric aciduria type I presenting with a leukoencephalopathy
2002; Lippincott Williams & Wilkins; Volume: 59; Issue: 11 Linguagem: Inglês
10.1212/01.wnl.0000036616.11962.3c
ISSN1526-632X
AutoresOliver Bähr, Irina Mader, Johannes Zschocke, J. Dichgans, Jörg B. Schulz,
Tópico(s)RNA and protein synthesis mechanisms
ResumoGlutaric 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.
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