摘要
目的探讨经典型枫糖尿症的远期预后及治疗,尤其是饮食治疗。方法随访1例经典型枫糖尿症患儿,重点观察其新生儿期后并发症的发生及饮食情况。结果患儿遗留明显的神经系统损害,但在新生儿期后,以亮氨酸日耐受量为核心控制目标的个性化饮食治疗有效减少了代谢危象及并发症的发生。患儿致病基因位于BCKDHB。结论监测支链氨基酸和个性化饮食治疗有助于减少枫糖尿症患儿急性代谢危象及并发症的发生,提高其生存质量。
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.
出处
《临床儿科杂志》
CAS
CSCD
北大核心
2013年第10期968-971,共4页
Journal of Clinical Pediatrics
关键词
枫糖尿症
并发症
治疗
基因型
临床表型
maple syrup urine disease
complications
therapy
genotype
clinical phenotype
