Wang Ying, Fu Shujun, Yang Yuqi, Wang Huaiyan, Zhang Yuping, Zhou Hong, Yu Bin
Changzhou Maternal and Child Health Care Hospital, Changzhou, Jiangsu 213003, China. Email:
Tianning District Maternal and Child Health Care and Family Planning Service Center, Changzhou, Jiangsu 213000, China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019 Jun 10;36(6):602-605. doi: 10.3760/cma.j.issn.1003-9406.2019.06.018.
To review the clinical features of a male twin affected with glutaric academia type I (GA-I) and analyze the variations of glutaryl-CoA dehydrogenase (GCDH) gene.
Clinical data of the pair of twins and their parents were collected. Genomic DNA was extracted from peripheral blood samples, and variants of GCDH genes were detected by capture sequencing using a customized panel. Variants of the twins and their parents were verified by Sanger sequencing.
The level of glutaric acyl carnitine (C5DC + C6OH) was 3.26 μmol/L in the male twin. The relative level of glutaric acid in urine was 547.51 by gas chromatography mass spectrometry analysis. Cerebral ultrasonography showed that the patient had subependymal hemorrhage, but no serious clinical manifestation was noted. After treating with special formula milk powder and L-carnitine, the boy showed good growth and development. Two heterozygous variants of the GCDH gene were detected in the patient, among which c.416C>G was suspected to be pathogenic, while c.109_110delCA was unreported. The variants were respectively inherited from his parents. The twin girl only carried the c.416C>G variant.
GA-I can be diagnosed by mass spectrometry, urine gas chromatographic mass spectrometry, imaging as well as genetic diagnosis. Early diagnosis and intervention is important.
回顾1例患I型戊二酸血症（GA-I）男性双胞胎的临床特征，并分析戊二酰辅酶A脱氢酶（GCDH）基因的变异情况。
收集这对双胞胎及其父母的临床资料。从外周血样本中提取基因组DNA，使用定制的检测板通过捕获测序检测GCDH基因的变异。双胞胎及其父母的变异通过桑格测序进行验证。
男性双胞胎中戊二酰肉碱（C5DC + C6OH）水平为3.26μmol/L。气相色谱-质谱分析显示尿液中戊二酸相对水平为547.51。脑部超声检查显示该患者有室管膜下出血，但未观察到严重的临床表现。经特殊配方奶粉和L-肉碱治疗后，该男孩生长发育良好。在患者中检测到GCDH基因的两个杂合变异，其中c.416C>G被怀疑具有致病性，而c.109_110delCA未见报道。这些变异分别遗传自他的父母。双胞胎女孩仅携带c.416C>G变异。
GA-I可通过质谱、尿液气相色谱-质谱、影像学以及基因诊断进行确诊。早期诊断和干预很重要。
