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

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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 cardiomyopathy, peripheral neuropathy, retinopathy, and even lead to death in severe cases.Herein, we report a patient who was hospitalized due to flatulence, crying, irritability, and died of acute cardiopulmonary failure after 8 days in hospital. An autopsy was performed to determine the cause of death. Clinical examination revealed abnormal liver and kidney function, and the genetic metabolic disease profile indicated significantly elevated levels of long-chain acyl-carnitine and long-chain 3-OH-acyl-carnitine. Histopathological examination revealed diffuse hepatic steatosis, and the genetic sequencing results detected compound heterozygous mutations in the HADHA gene (c.1528G>C [p.E510Q] and c.703_704dupCG [p.T236Gfs*3]). Of note, the mother had a history of acute fatty liver during pregnancy. Collectively, our study may contribute to understanding the HADHA gene mutation profile and the clinical phenotype of LCHAD deficiency, emphasizing the importance of genetic testing in forensic pathology.

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