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....

Full description

Saved in:
Bibliographic Details
Published in:Annals of neurology 2004-11, Vol.56 (5), p.727-730
Main Authors: Bischof, Felix, Nägele, Thomas, Wanders, Ronald J. A., Trefz, Friedrich K., Melms, Arthur
Format: Article
Language:English
Subjects:
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
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
ISSN:0364-5134
1531-8249
DOI:10.1002/ana.20280