Zhang Yanghui, Li Haoxian, Ma Ruiyu, Mei Libin, Wei Xianda, Liang Desheng, Wu Lingqian
State Key Laboratory of Medical Genetics, Central South University, 110 Xiangya Road, Changsha, Hunan 410078, China.
State Key Laboratory of Medical Genetics, Central South University, 110 Xiangya Road, Changsha, Hunan 410078, China; Hunan Jiahui Genetics Hospital, 110 Xiangya Road, Changsha, Hunan 410078, China.
Clin Chim Acta. 2016 Jan 30;453:75-9. doi: 10.1016/j.cca.2015.12.003. Epub 2015 Dec 4.
Glutaric aciduria type I (GA-I) is a rare autosomal recessive metabolic disorder caused by deficiency of glutaryl-CoA dehydrogenase (GCDH), leading to an abnormal metabolism of lysine, hydroxylysine and tryptophan. It results in accumulations of glutaric acid, 3-hydroxyglutaric acid and glutaconic acid. Clinical features include the sudden onset of encephalopathy, hypotonia and macrocephaly usually before age 18months. Here we report five cases of GA-I confirmed with mutation analysis. GCDH gene mutations were identified in all five probands with GA-I. Three of them had compound heterozygous mutations and two had homozygous mutations. Mutations of two alleles (c.334G>T and IVS11-11A>G) were novel and both of them were confirmed to be splice site mutations by reverse transcription PCR.
I型戊二酸血症（GA-I）是一种罕见的常染色体隐性代谢紊乱疾病，由戊二酰辅酶A脱氢酶（GCDH）缺乏引起，导致赖氨酸、羟赖氨酸和色氨酸代谢异常。它会导致戊二酸、3-羟基戊二酸和戊烯二酸的蓄积。临床特征通常包括在18个月龄前突然出现脑病、肌张力减退和巨头畸形。在此，我们报告5例经突变分析确诊的GA-I病例。在所有5例GA-I先证者中均鉴定出GCDH基因突变。其中3例为复合杂合突变，2例为纯合突变。两个等位基因的突变（c.334G>T和IVS11-11A>G）是新发现的，并且通过逆转录PCR证实它们均为剪接位点突变。
