Abstract
Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase (LCHAD) Deficiency (OMIM # 609016) is an autosomal recessive of mitochondrial fatty acid β-oxidation caused by biallelic pathogenic variants in the HADHA gene. In this condition, fasting or catabolism, in the absence of adequate caloric intake, can result in hypoglycemia. Hypoglycemia leads to the utilization of free fatty acids, which then enter the mitochondria via the carnitine cycle. In individuals with a fully functional LCHAD enzyme, the hydroxy form of free fatty acids is oxidized to acetyl-CoA, which is then used to produce ketones; this process can compensate for the energy needs not satisfied by glucose.
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