VERY LONG-CHAIN ACYL-COA DEHYDROGENASE-DEFICIENCY - SUCCESSFUL TREATMENT OF ACUTE CARDIOMYOPATHY

Very-long-chain acyl-CoA dehydrogenase (VLCAD) deficiency is a severe defect of mitochondrial fatty acid oxidation characterized by hypertro phic cardiomyopathy, pericardial effusion, steatosis, and hypoglycemia , often resulting in death by 4-5 months of age. The onset of cardiomy opathy and pericardial effusion is insidious and sudden, necessitating early diagnosis and intervention to prevent death. A family affected with this defect is described in which dietary therapy with medium-cha in triglycerides (MCT) was associated with rapid reversal of these sev ere clinical symptoms. Diagnosis by acylcarnitine analysis in the neon atal period can provide the opportunity for early clinical interventio n. Prenatal diagnosis from amniocytes by enzymology or in vitro analys is of the fat oxidation pathway with deuterated fatty acid precursors has also been successful and permits intervention at birth. Of 10 affe cted children, 7 untreated cases died within the first several months while the remaining 3 cases survived when treated with medium-chain tr iglycerides as the maim source of dietary fat. (C) 1996 Academic Press , Inc.