2-甲基3-羟基丁酸尿症1例

1 Cases of 2-Methyl 3-Hydroxybutyric Aciduria

2-甲基3-羟基丁酸尿症为罕见病,发病率低,但常并发致死性的严重酸中毒,故应尽早明确病因、及时治疗原发病,当临床上发现婴幼儿有呕吐、发作性酮症、严重代谢性酸中毒时,应考虑代谢性疾病可能,尽早行血尿代谢病筛查以明确诊断。

2-methyl 3-hydroxybutyric aciduria is a rare disease,incidence of a disease is low,but is often associated with severe acidosis fatal,it should be early diagnosis,timely treatment of the primary disease,when the infant vomiting,seizures ketosis,severe metabolic acidosis found clinical y,we should consider the possible metabolic diseases as screening,early diagnosis of metabolic disease with hematuria.