An application experience of a specialized product based on 100% medium-chain triglyceride oil in diet therapy of a child with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHAD) is a hereditary disease referred to the group of disorders of mitochondrial β-oxidation of fatty acids with autosomal recessive inheritance. The main symptoms include hypoglycemia, hepatic steatosis, cardiomyopathy, cardiac arrhythmias, progressive muscle hypotension. We present a case of successful diagnosis and treatment of a long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHAD) with the use of 100% medium chain triglycerides’ oil product. The importance of the possibly earliest verification of the diagnosis and initiation of diet therapy using medium-chain triglyceride oils is emphasized, which allows to reduce the disease manifestations and determines the need to include diseases of mitochondrial fatty acids β-oxidation into the neonatal screening program.