国际儿科学杂志
國際兒科學雜誌
국제인과학잡지
INTERNATIONAL JOURNAL OF PEDIATRICS
2013年
5期
514-517
,共4页
枫糖尿症%临床表型%基因型%治疗
楓糖尿癥%臨床錶型%基因型%治療
풍당뇨증%림상표형%기인형%치료
Maple syrup urine disease%Clinical phenotypes%Genotypes%Treatment
枫糖尿症是一种罕见的常染色体隐性遗传性支链氨基酸代谢病,以神经系统症状及尿液枫糖味为突出表现,血氨基酸分析可见亮氨酸为主的支链氨基酸水平显著升高,按临床表现分为5种临床表型,按受累基因不同分为4种基因型,该病的治疗主要包括急性代谢危象期治疗及慢性期饮食治疗,总体预后不佳.
楓糖尿癥是一種罕見的常染色體隱性遺傳性支鏈氨基痠代謝病,以神經繫統癥狀及尿液楓糖味為突齣錶現,血氨基痠分析可見亮氨痠為主的支鏈氨基痠水平顯著升高,按臨床錶現分為5種臨床錶型,按受纍基因不同分為4種基因型,該病的治療主要包括急性代謝危象期治療及慢性期飲食治療,總體預後不佳.
풍당뇨증시일충한견적상염색체은성유전성지련안기산대사병,이신경계통증상급뇨액풍당미위돌출표현,혈안기산분석가견량안산위주적지련안기산수평현저승고,안림상표현분위5충림상표형,안수루기인불동분위4충기인형,해병적치료주요포괄급성대사위상기치료급만성기음식치료,총체예후불가.
Maple syrup urine disease (MSUD) is a rare inherited disorder of branched-chain amino acid metabolism presenting with life threatening encephalopathy and maple syrup odor in urine in affected individuals.Blood levels of branched-chain amino acids(BCAA) significantly increase.It is classified into 5 forms according to the clinical course,and classified 4 molecular phenotypes based on the affected locus of the branched chain αr-ketoacid dehydrogenase complex.Treatment of MSUD is divided into acute decompensation stage treatment and life-long dietary restriction treatment.
