LCHADD - niedobór dehydrogenazy 3-hydroksyacylo-CoA długołańcuchowych kwasów tłuszczowych u 4-miesięcznego niemowlęcia

Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency is one of the defects of mitochondrial β-oxidation. It is caused by mutation transmitted as an autosomal recessive trait. It is often characterized by variety of clinical features: hepatopathy, cardiomyopathy and neuromyopathy. The most common laboratory findings are hypoketotic hypoglycemia and metabolic acidosis. There is no causative treatment. Low-fat, high-carbohydrate diet is recommended in the symptomatic therapy. The aim of this report is to describe a case of 4-month infant who died of LCHADD deficiency.