https://www.selleckchem.com/pr....oducts/chir-99021-ct
LCHAD (long-chain 3-hydroxyacyl-CoA dehydrogenase) deficiency is a rare genetic disorder of mitochondrial long-chain fatty acid oxidation inherited as a recessive trait. Affected patients can present with hypoglycaemia, rhabdomyolysis and cardiomyopathy. About half of the patients may suffer from retinopathy. A 19-year-old girl was diagnosed as suffering from LCHAD deficiency with recurrent rhabdomyolysis episodes at the age of 7months by an inaugural coma with hypoglycaemia and hepatomegaly. Appropriate dietary managemen
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