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, cardi...
Topics
- 3-Hydroxyacyl CoA Dehydrogenases
- Cardiomyopathies
- Fatal Outcome
- Female
- Humans
- Hypoglycemia
- Infant
- Infant, Newborn
- Lipid Metabolism, Inborn Errors
- Liver Diseases
- Male
- Muscle Hypotonia
- Mutation
- Retinal Diseases