医学信息
醫學信息
의학신식
MEDICAL INFORMATION
2014年
26期
656-656
,共1页
2-甲基3-羟基丁酸尿症
2-甲基3-羥基丁痠尿癥
2-갑기3-간기정산뇨증
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-甲基3-羥基丁痠尿癥為罕見病，髮病率低，但常併髮緻死性的嚴重痠中毒，故應儘早明確病因、及時治療原髮病，噹臨床上髮現嬰幼兒有嘔吐、髮作性酮癥、嚴重代謝性痠中毒時，應攷慮代謝性疾病可能，儘早行血尿代謝病篩查以明確診斷。
2-갑기3-간기정산뇨증위한견병，발병솔저，단상병발치사성적엄중산중독，고응진조명학병인、급시치료원발병，당림상상발현영유인유구토、발작성동증、엄중대사성산중독시，응고필대사성질병가능，진조행혈뇨대사병사사이명학진단。
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.
