期刊
NEUROMUSCULAR DISORDERS
卷 11, 期 8, 页码 757-759出版社
PERGAMON-ELSEVIER SCIENCE LTD
DOI: 10.1016/S0960-8966(01)00228-0
关键词
carnitine; carnitine palmitoyltransferase deficiency; rhabdomyolysis; valproic acid
A 47-year-old man suffering from a bipolar disorder and intermittent myoglobinuria presented with acute rhabdomyolysis with renal failure after starting therapy with valproic acid. On morphological examination, skeletal muscle revealed increased lipid storage. Biochemically, decreased enzyme activity of carnitine palmitoyltransferase (CPT) type II with carnitine levels in the lower limit was found. Genetic analysis detected the common Ser113Leu substitution on one allele of the CPT2 gene. We conclude that valproic acid should be avoided in patients with CPT type II deficiency. (C) 2001 Elsevier Science B.V. All rights reserved.
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