ABSTRACT
Multiple acyl-CoA dehydrogenase deficiency,also known as glutaric aciduria typeⅡ,is an autosomal recessive inherited metabolic disease. It is a mitochondrial electron transport chain and fatty acid metabolism disorder caused by a defect of electron transfer flavoprotein(ETF)or ETF dehydrogenase(ETFDH),resulting in the damage to multiple organs such as myocardia,liver,brain and skeletal muscle. The clinical diagnosis of multiple acyl-CoA dehydrogenase deficiency is difficult due to the lack of specific symptoms and signs of the patients. To make a definitive diagnosis,blood aminoacids and acylcarnitine profiles,urinary organic acids profiles and gene analysis are necessary. According to the response to ribo-flavin(or vitamin B2),multiple acyl-CoA dehydrogenase deficiency could be divided into riboflavin-responsive form and riboflavin-unresponsive form. The riboflavin-responsive form is usually observed in the late-onset cases with good outcome.The patients of riboflavin-unresponsive form usually have early-onset with severe diseases. Bezafibrate, L-carnitine,coenzyme Q10,sodium-D,L-3-hydroxybutyrate and low-fat die should be considered for the treatment. Some patients with riboflavin-unresponsive form show poor outcome.
ABSTRACT
Multiple acyl-CoA dehydrogenase deficiency (MADD) is a common inborn error of fatty-acid metabolism characterized by vomiting, acidosis and lipid storage myopathy, and the clinical manifestations of MADD are highly heterogeneous. MADD can be diagnosed by the elevation of multiple acyl-carnitine in blood and glutaric acid or other organic acid in urine. The neonatal-onset patients have severe symptoms and poor prognosis. However, oral riboflavin supplementation (can completely rescue) ameliorate the clinical and laboratory disorders rapidly especially to the riboflavin responsive MADD. Additionally, patients not sensitive to riboflavin should also take low lipid, low protein and high carbonhydrate diet besides riboflavin.