枫糖尿病
病因学
疾病
先天性代谢错误
彗差(光学)
低血糖
生物
儿科
医学
皮肤病科
重症监护医学
内科学
遗传学
胰岛素
氨基酸
亮氨酸
物理
光学
作者
Caifei Yang,Tao Chen,Lei Xu,Yuexian Liu,Mengyuan Xu,Dan Yang
出处
期刊:PubMed
日期:2019-07-10
卷期号:36 (7): 737-741
被引量:1
标识
DOI:10.3760/cma.j.issn.1003-9406.2019.07.021
摘要
Maple syrup disease (MSUD) is a rare autosomal recessive disorder caused primarily by mutations of branched-chain keto acid dehydrogenase complex (BCKDC). BCKDC includes at least four pathogenic genes of BCKDHA, BCKDHB, DLD and DBT. The clinical manifestations of MSUD are complex, and the main symptoms at the early stage include difficulty in feeding, drowsiness, change in muscle tone and special urine flavor of maple syrup. As the disease progresses, convulsion, hypoglycemia, coma and systemic failure may occur. MSUD is easily missed or misdiagnosed during the neonatal period. This paper provides a review for recent progress made in research on MSUD including etiology, physiopathology, clinical manifestation, auxiliary examination and treatment, with a particular emphasis on genetic testing and treatment.
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