| Literature DB >> 22771013 |
Saumya S Jamuar1, Stephanie A Newton, Sanjay P Prabhu, Leah Hecht, Karen C Costas, Ann E Wessel, David J Harris, Irina Anselm, Gerard T Berry.
Abstract
An 8-½ year old boy with glutaric aciduria type I (GA1) and chronic dystonia presented with severe rhabdomyolysis in association with a febrile illness. His clinical course was complicated by acute renal failure, cardiac arrest and hypoxic ischemic encephalopathy. As acute neurological decompensation is typically not seen in patients with GA1 beyond early childhood, this case report serves as an important reminder that patients with GA1 and status dystonicus may be at risk for acute life-threatening rhabdomyolysis, renal failure and further neurological injury at any age.Entities:
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Year: 2012 PMID: 22771013 DOI: 10.1016/j.ymgme.2012.05.018
Source DB: PubMed Journal: Mol Genet Metab ISSN: 1096-7192 Impact factor: 4.797