3-甲基戊二酸尿症1
基因病名称(英)
3-methylglutaconic aciduria 1
别名(英)
3-alpha-methylglutaconic aciduria type 1,3-alpha-methylglutaconyl-CoA hydratase deficiency,3-methylglutaconyl-CoA hydratase deficiency,3MG-CoA hydratase deficiency,MGA1,MGA type I
别名
3-α-甲基戊二酸尿症 1,3-α-甲基戊二酰辅酶A水合酶缺乏症,3-甲基戊二酰辅酶A水合酶缺乏症,3MG-辅酶A水合酶缺乏症,MGA1,MGA I型
统计
reviewed:1; annotated:0
交叉引用
250950,C0342727,D000592
描述(英)
An inborn error of leucine metabolism. It leads to an autosomal recessive syndrome with variable clinical phenotype, ranging from delayed speech development to severe psychomotor retardation, coma, failure to thrive, metabolic acidosis and dystonia. MGCA1 can be distinguished from other forms of MGCA by the pattern of metabolite excretion: 3-methylglutaconic acid levels are higher than those detected in other forms, whereas methylglutaric acid levels are usually only slightly elevated and there is a high level of 3- hydroxyisovaleric acid excretion (not present in other MGCA forms).
描述
亮氨酸代谢的先天错误。它导致具有可变临床表型的常染色体隐性遗传综合征，范围从语言发育延迟到严重的精神运动迟缓、昏迷、发育迟缓、代谢性酸中毒和肌张力障碍。MGCA1 可以通过代谢物排泄模式与其他形式的 MGCA 区分开来：3-甲基戊二酸水平高于在其他形式中检测到的水平，而甲基戊二酸水平通常仅略微升高，并且存在高水平的 3-羟基异戊酸排泄（不存在于其他 MGCA 形式中）。