戊二酸尿症Ⅰ型(GA—I)是一种常染色体隐性遗传病,是由于戊二酸辅酶A脱氢酶(GD)活性的缺乏所致。临床表现呈多种多样,大部分患儿首发年龄在6～12个月,表现锥体外系的症状合并代谢性酸中 Glutaric aciduria type 1 (GA-I) is an autosomal recessive disease caused by a lack of activity of glutaric acid coenzyme A dehydrogenase (GD). A wide range of clinical manifestations, most children aged 6 to 12 months, the performance of extrapyramidal symptoms with metabolic acidosis