Very long chain acyl-CoA dehydrogenase deficiency: successful treatment of acute cardiomyopathy
MC Brown-Harrison, MA Nada, H Sprecher… - … and molecular medicine, 1996 - Elsevier
Very-long-chain acyl-CoA dehydrogenase (VLCAD) deficiency is a severe defect of
mitochondrial fatty acid oxidation characterized by hypertrophic cardiomyopathy, pericardial
effusion, steatosis, and hypoglycemia, often resulting in death by 4–5 months of age. The
onset of cardiomyopathy 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-chain triglycerides (MCT) was associated …
mitochondrial fatty acid oxidation characterized by hypertrophic cardiomyopathy, pericardial
effusion, steatosis, and hypoglycemia, often resulting in death by 4–5 months of age. The
onset of cardiomyopathy 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-chain triglycerides (MCT) was associated …