Clinical and molecular investigation in Chinese patients with glutaric aciduria type I

详细信息    查看全文

• 作者：Yanghui Zhang^a ; Haoxian Li^a ; ^b ; Ruiyu Ma^a ; Libin Mei^a ; Xianda Wei^a ; Desheng Liang^a ; ^b ; ^{liangdesheng@sklmg.edu.cn" class="auth_mail" title="E-mail the corresponding author} ; Lingqian Wu^a ; ^b ; ^{wulingqian@sklmg.edu.cn" class="auth_mail" title="E-mail the corresponding author}
• 关键词：Glutaric aciduria type I ; GCDH ; Splice site mutation ; Newborn screening
• 刊名：Clinica Chimica Acta
• 出版年：2016
• 出版时间：30 January 2016
• 年：2016
• 卷：453
• 期：Complete
• 页码：75-79
• 全文大小：605 K

文摘

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 18 months. 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.