3-hydroxy-3-methylglutaryl-CoA lyase deficiency in an adult with 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....
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Published in: | Annals of neurology 2004-11, Vol.56 (5), p.727-730 |
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Main Authors: | , , , , |
Format: | Article |
Language: | English |
Subjects: | |
Citations: | Items that this one cites Items that cite this one |
Online Access: | Get full text |
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Summary: | 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. Ann Neurol 2004;56:727–730 |
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ISSN: | 0364-5134 1531-8249 |
DOI: | 10.1002/ana.20280 |