Combined methylmalonic aciduria and homocystinuria cblc type of a Taiwanese infant with c.609G>A and c.567dupT mutations in the MMACHC gene

Jenn Tzong Chang, Ying Yao Chen, Tze Tze Liu, Mei Ying Liu, Pao Chin Chiu*

*此作品的通信作者

研究成果: Article同行評審

14 引文 斯高帕斯(Scopus)

摘要

Combined methylmalonic aciduria and homocystinuria, cobalamin (cbl)C type (cblC disease), the most common inborn error of vitamin B12, is a rare disorder of intracellular cbl metabolism because of mutations in the MMACHC gene located in chromosome region 1p34.1. It has become possible to establish phenotype-genotype correlations and to observe ethnicity-related trends. This article provides detailed clinical manifestations and outcomes of a Taiwanese infant boy with early-onset cblC disease, heterozygous for c.609G>A and c.567dupT mutations, although there is limited information about cases with c.609G>A or c.567dupT mutation in the literature. He had no significant clinical abnormality during his neonatal period, whereas elevated C3 level was noted at newborn screening. He presented later with life-threatening manifestations and failure to thrive, which resolved through our treatment, although delayed development was still noted at 6 months of age. To date, all reported cblC patients with the c.609G>A mutation have been East Asians. Therefore, we suggest that c.609G>A should be included in the initial mutation screening tests for a cblC patient in East Asian populations.

原文English
頁(從 - 到)223-226
頁數4
期刊Pediatrics and Neonatology
52
發行號4
DOIs
出版狀態Published - 8月 2011

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