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An Autopsy Analysis of a Patient With Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency Caused by Compound Heterozygous HADHA Gene Mutations.

The American journal of forensic medicine and pathology - 1 Dec 2023

Zhang Qinjian, Yao Nan, Liu Zunzhong, Xu Changmiao, Ding Zijiao

Abstract excerpt

ABSTRACT: Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency is a rare mitochondrial disease characterized by lipid oxidation disorder. It is an autosomal recessive disease induced by a mutation in the HADHA gene, which encodes the LCHAD deficiency. The clinical manifestations of this disease are diverse, primarily affecting the heart, liver, and skeletal muscles. Common symptoms include...

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PMID: 37549033
DOI: 10.1097/PAF.0000000000000872

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