Analysis of clinical characteristics and related gene mutation characteristics in a case of maple syrup urine disease
10.3760/cma.j.cn101070-20190807-00719
- VernacularTitle:枫糖尿症1例临床特点及相关基因突变特点分析
- Author:
Xinxin TANG
1
;
Qin ZHENG
;
Shuang LIU
;
Yali ZHAO
;
Ying GU
;
Leilei WANG
Author Information
1. 连云港市妇幼保健院遗传实验室 222000
- From:
Chinese Journal of Applied Clinical Pediatrics
2020;35(20):1586-1588
- CountryChina
- Language:Chinese
-
Abstract:
The clinical characteristics and gene mutation characteristics of a child with typical maple syrup urine disease were analyzed retrospectively.The child is a boy, who showed unexplained milk refusal, poor reaction, foaming at the mouth, and encephalopathy symptoms 7 days after birth.The total leucine concentration was abnormally increased by blood tandem mass spectrometry, and the results of urine gas chromatography/mass spectrometry suggested that the concentrations of 2-hydroxy isovaleric acid, 2-keto isovaleric acid, 2-keto-3-methylpentanoic acid and 2-keto-isohexanoic acid were significantly increased.The gene detection results showed that c. 1028delC (p.S343Lfs*9) homozygous mutation was found in the BCKDHB gene.Understanding the clinical symptoms and gene mutation characteristics of this disease can help with the early detection and early diagnosis of this disease, so as to improve its prognosis to the greatest extent.
