Analysis of clinical characteristics and related gene mutation characteristics in a case of maple syrup urine disease / 中华实用儿科临床杂志
Chinese Journal of Applied Clinical Pediatrics
; (24): 1586-1588, 2020.
Article
de Zh
| WPRIM
| ID: wpr-864270
Bibliothèque responsable:
WPRO
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.
Texte intégral:
1
Base de données:
WPRIM
Type d'étude:
Prognostic_studies
/
Screening_studies
Langue:
Zh
Journal:
Chinese Journal of Applied Clinical Pediatrics
Année:
2020
Type de document:
Article