GA2/MADD is an inherited disorder that reduces the body’s ability to obtain energy from most proteins and fats. The mitochondria, known as “powerhouses of the cell,” cannot process the energy from fats and amino acids because of a defect in electron transfer flavoproten (ETF) or electron transfer flavoprotein dehydrogenase (ETFDH).

Glutaric aciduria II (GA2) is an autosomal recessively inherited disorder of fatty acid, amino acid, and choline metabolism.

In China, MADD/GA2 is much more common and occurs in approximately 1 in every 22,000 newborns of Han Chinese descent. Signs and Symptoms MADD/GA2 can present as a serious condition at birth or as a milder disease in adolescence or young adulthood. Whether your child was diagnosed via newborn screening may also a˛ect when, if, and how

Multiple acyl-coenzyme A dehydrogenase deficiency (MADD), also known as glutaric acidemia type 2 (GA2) (OMIM 231680), is caused by the deficiency of one of the two-electron transfer flavoproteins (electron transfer flavoprotein-ETF, or electron transfer flavoprotein dehydrogenase-ETFDH) that transfer electrons from acyl-CoA dehydrogenases to ...

II 型戊二酸血症 (GA-II),也称多种酰基辅酶A脱氢酶缺乏症（MADD），是一种遗传性疾病，会干扰人体分解蛋白质和脂肪产生能量的能力。 未完全加工的蛋白质和脂肪会在体内积聚，导致血液和组织变得过于酸性（代谢性酸中毒）。 患有这些疾病的人缺乏或缺乏一种酶，这种酶可以阻止体内某些化学物质（蛋白质和脂肪）的分解，从而导致血液和尿液中几种有机酸的积累。 GA-2 代表“2 型戊二酸血症”。 患有 GA-2 的人在将脂肪和蛋白质分解为身体能量方面存在困难。 GA-2 的症 …

2020年6月18日 · Clinical characteristics: Multiple acyl-CoA dehydrogenase deficiency (MADD) represents a clinical spectrum in which presentations can be divided into type I (neonatal onset with congenital anomalies), type II (neonatal onset without congenital anomalies), and type III (late onset). Individuals with type I or II MADD typically become symptomatic in the neonatal period with severe metabolic ...

Glutaric aciduria type II (GA2), also known as multiple acyl-CoA dehydrogenase deficiency (MADD), is caused by a deficiency of either electron transport flavoprotein or of electron transport flavoprotein oxoreductase.

Multiple acyl-CoA dehydrogenase deficiency (MADD) represents a clinical spectrum in which presentations can be divided into type I (neonatal onset with congenital anomalies), type II (neonatal onset without congenital anomalies), and type III (late onset).

2020年11月4日 · 多种酰基辅酶A脱氢酶缺乏症（Multiple Acyl-CoA Dehydrogenase Deficiency，MADD），又名戊二酸血症Ⅱ型（Glutaric acidemia type Ⅱ，GA2）是一种以低酮或非酮症性低血糖症和代谢性酸中毒为临床特征的遗传代谢病，为常染色体隐性遗传病。主要病理改变为肝细胞、肾小管上皮 ...

Glutaric aciduria II (GA2) is an autosomal recessively inherited disorder of fatty acid, amino acid, and choline metabolism.