LCHAD deficiency
Definition:
Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency is an autosomal recessive disorder affecting mitochondrial fatty acid oxidation due to mutations in the HADHA gene. It is characterized by hypo-ketotic hypoglycemia, vomiting, lethargy, hypotonia, and hepatomegaly. In addition, patients may present with cardiomyopathy, peripheral neuropathy, retinopathy, seizures, coma, and sudden infant death (SIDS). Acute fatty liver of pregnancy and the HELLP syndrome (hemolysis, elevated liver-enzyme levels, and a low platelet count) are serious hepatic disorders that may occur during pregnancy in women whose fetuses are later found to have a LCHAD deficiency.
References:
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[1]. Berivan Baskin, et al. Paternal isodisomy of chromosome 2 as a cause of long chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency. Am J Med Genet A. 2010 Jul;152A(7):1808-11. [Content Brief]
[2]. J A Ibdah, et al. A fetal fatty-acid oxidation disorder as a cause of liver disease in pregnant women. N Engl J Med. 1999 Jun 3;340(22):1723-31. [Content Brief]
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