Increased nuchal translucency in a case of long-chain 3-hydroxyacyl- coenzyme A dehydrogenase deficiency.

The recovery from dilated cardiomyopathy followed by hypertrophic cardiomyopathy, in the course of deficiency of long-chain 3-hydroxyacyl- coenzyme A dehydrogenase in infant

Dilated cardiomyopathy is one of the most common causes of the heart failure in childhood and can develop as a consequence of metabolic disorders such as fatty acid beta-oxidation disorders or amino acids metabolism disorders. In our report we present a case where in the course of deficiency of long-chain 3-hydroxyacyl-coenzyme A dehydrogenase the recovery from dilated cardiomyopathy resulted i...

Medium-Chain Acyl-CoA Dehydrogenase Deficiency in an Infant with Dilated Cardiomyopathy

We report about an infant affected by dilated cardiomyopathy (CMP) in whom metabolic investigations evidenced medium-chain-acyl-CoA dehydrogenase deficiency (MCADD), that is one of three types of inherited disorders of mitochondrial fatty-acid beta-oxidation. Long-chain and very long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficits are recognized as responsible of hypertrophic or, less fre...

Placental floor infarction complicating the pregnancy of a fetus with long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency.

By postmortem biochemical and molecular genetic analyses, an 8-month-old infant was diagnosed with long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency, an inborn error of mitochondrial fatty acid beta-oxidation. He was born following a pregnancy complicated by a maternal floor infarction of the placenta, a disorder of unknown etiology. We speculate that the child's autosomal recessive ...

[Long-chain 3-hydroxyacyl-coenzyme a dehydrogenase deficiency and cardiomyopathy].

Common Missense Mutation G1528C in Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency Characterization and Expression of the Mutant Protein, Mutation Analysis on Genomic DNA and Chromosomal Localization of the Mitochondrial Trifunctional Protein a Subunit Gene

Mitochondrial trifunctional protein (MTP) is a recently identified enzyme involved in mitochondrial b -oxidation, harboring long-chain enoyl-CoA hydratase, long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) and long-chain 3-ketothiolase activity. A deficiency of this protein is associated with impaired oxidation of long-chain fatty acids which can lead to sudden infant death. Furthermore, it is...