Placental floor infarction complicating the pregnancy of a fetus with long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency.
نویسندگان
چکیده
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 fatty acid beta-oxidation disorder and the pregnancy complication are causally related.
منابع مشابه
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...
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ورودعنوان ژورنال:
- Paediatric anaesthesia
دوره 20 4 شماره
صفحات -
تاریخ انتشار 2001