A report of 18-month follow-up study on a case of classic maple syrup urine disease

VernacularTitle:经典型枫糖尿症1例随访18个月报告
Author: Yi GUO ; Li JIANG ; Lin KONG
Publication Type:Journal Article
Keywords: maple syrup urine disease; complications; therapy; genotype; clinical phenotype
From: Journal of Clinical Pediatrics 2013;(10):968-971
CountryChina
Language:Chinese
Abstract: Objectives To explore the long-term prognosis, treatment (especially dietary treatment) of classic maple syrup urine disease. Methods The complications and dietary treatment were observed by follow-up study of a classic MSUD patient. Results The patient have obvious damage in nervous system. However, reasonable dietary leucine tolerance therapy after the neonatal period can effectively reduce the metabolic crisis and complications. A mutation in BCKDHB gene was detected in the patient by genetic testing. Conclusion It is suggested that dietary restriction and monitoring of branched-chain amino acids are helpful to reduce the development of acute metabolic crisis and complications and improve the quality of life.