中国当代儿科杂志2016，Vol.18Issue(10)：1019-1025,7.DOI:10.7499/j.issn.1008-8830.2016.10.021
中、短链酰基辅酶A脱氢酶缺乏症患儿临床特点分析及基因突变研究
An analysis of clinical characteristics and gene mutation in two patients with medium- and short-chain acyl-CoA dehydrogenase deifciency
摘要
Abstract
Medium- and short-chain acyl-CoA dehydrogenase deficiency is a disorder of fatty acid β-oxidation. Gene mutation prevents medium- and short-chain fatty acids from entry into mitochondria for oxidation, which leads to multiple organ dysfunction. In this study, serum acylcarnitines and the organic acid proifle in urea were analyzed in two children whose clinical symptoms were hypoglycemia and metabolic acidosis. Moreover, gene mutations in the two children and their parents were evaluated. One of the patients was a 3-day-old male who was admitted to the hospital due to neonatal asphyxia, sucking weakness, and sleepiness. The serum acylcarnitine proifle showed increases in medium-chain acylcarnitines (C6-C10), particularly in C8, which showed a concentration of 3.52 μmol/L (reference value: 0.02-0.2 μmol/L). The analysis of organic acids in urea gave a normal result. Sanger sequencing revealed a reported c.580A>G (p.Asn194Asp) homozygous mutation at exon 7 of the ACADM gene. The other patient was a 3-month-old female who was admitted to the hospital due to cough and recurrent fever for around 10 days. The serum acylcarnitine proifle showed an increase in serum C4 level, which was 1.66 μmol/L (reference value: 0.06-0.6 μmol/L). The analysis of organic acids in urea showed an increase in the level of ethyl malonic acid, which was 55.9 (reference value: 0-6.2). Sanger sequencing revealed a reported c.625G>A (p.Gly209Ser) homozygous mutation in the ACADS gene. This study indicates that screening tests for genetic metabolic diseases are recommended for children who have unexplained metabolic acidosis and hypoglycemia. Genetic analyses of the ACADM and ACADS genes are helpful for the diagnosis of medium- and short-chain acyl-CoA dehydrogenase deifciency.关键词
脂肪酸β氧化障碍/中链酰基辅酶A脱氢酶/短链酰基辅酶A脱氢酶/儿童Key words
Fatty acid β-oxidation disorder/Medium-chain acyl-CoA dehydrogenase/Short-chain acyl-CoA dehydrogenase/Child引用本文复制引用
谭建强,陈大宇,李哲涛,黄际卫,严提珍,蔡稔..中、短链酰基辅酶A脱氢酶缺乏症患儿临床特点分析及基因突变研究[J].中国当代儿科杂志,2016,18(10):1019-1025,7.基金项目
柳州市科学研究与技术开发计划项目研究成果资助（2014G020404）；广西卫生厅项目（Z2013607）。 （）
