摘要
3- Hydroxy- 3- methylglutaryl- CoA lyase deficiency is a disorder of leucine metabolism that usually presents with recurrent episodes of life- threatening hypoglycemia during early childhood. We report on a 36- year- old woman with seizures, recurrent metabolic disturbances, and severe leukoencephalopathy. The diagnosis was made by analysis of amino acids in urine and serum and was confirmed by demonstration of the deficient enzyme in cultured skin fibroblasts. The patient improved clinically on oral L- carnitine substitution. This treatable condition can remain unrecognized in adults and should be considered a potential cause of leukoencephalopathy.
3- Hydroxy- 3- methylglutaryl- CoA lyase deficiency is a disorder of leucine metabolism that usually presents with recurrent episodes of life- threatening hypoglycemia during early childhood. We report on a 36- year- old woman with seizures, recurrent metabolic disturbances, and severe leukoencephalopathy. The diagnosis was made by analysis of amino acids in urine and serum and was confirmed by demonstration of the deficient enzyme in cultured skin fibroblasts. The patient improved clinically on oral L- carnitine substitution. This treatable condition can remain unrecognized in adults and should be considered a potential cause of leukoencephalopathy.
出处
《世界核心医学期刊文摘（神经病学分册）》
2005年第4期12-13,共2页
Digest of the World Core Medical Journals:Clinical Neurology
