Article
Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency with the G1528C mutation: clinical presentation of thirteen patients.
The Journal of pediatrics - 1 Jan 1997
Tyni T, Palotie A, Viinikka L, Valanne L, Salo M K, von Döbeln U, Jackson S, Wanders R, Venizelos N, Pihko H
Abstract excerpt
Long-chain 3-hydroxyacyl-coenzyme A (CoA) dehydrogenase is one of three enzyme activities of the mitochondrial trifunctional protein. We report the clinical findings of 13 patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. At presentation the patients had had hypoglycemia, cardiomyopathy, muscle hypotonia, and hepatomegaly during the first 2 years of life. Seven patients had recurrent metabolic...
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