新生儿瓜氨酸血症伴智力发育正常

Neonatal citrullinaemia with satisfactory mental development.

作者信息

Sanjurjo P, Rodríguez-Soriano J, Vallo A, Arranz A, Rubio V

机构信息

Department of Paediatics, Hospital Infantil de Cruces and Basque University School of Medicine, Bilbao, Spain.

出版信息

Eur J Pediatr. 1991 Aug;150(10):730-1. doi: 10.1007/BF01958766.

DOI:10.1007/BF01958766

PMID:1915487

Abstract

In an infant with neonatal citrullinaemia therapy was instituted on day 1 of life with a low-protein diet and oral supplements of arginine, alpha-keto-acids, essential amino acids and carnitine. The latter may have contributed to the excellent clinical outcome, as evidenced by normal growth and satisfactory psychomotor development at 3 years of age.

摘要

对于一名患有新生儿瓜氨酸血症的婴儿，在出生第1天就开始进行治疗，采用低蛋白饮食，并口服补充精氨酸、α-酮酸、必需氨基酸和肉碱。后者可能促成了良好的临床结果，3岁时生长正常且精神运动发育令人满意即为明证。