Genetic and biochemical study in a patient with glutaric acidemia type I.

中國醫藥大學機構典藏 China Medical University Repository, Taiwan > 中醫學院 > 學士後中醫學系 > 期刊論文 > Item 310903500/3201

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题名:	Genetic and biochemical study in a patient with glutaric acidemia type I.
作者:	林瑋德(Wei-De Lin);王仲興(Chung-Hsing Wang);賴建成(Chien-Chen Lai);李正淳(Cheng-Chun Lee);蔡輔仁(Fuu-Jen Tsai)*
贡献者:	中醫學院學士後中醫學系學士班中醫診斷學科;中國附醫醫學研究部遺傳中心
日期:	2004-07
上传时间:	2009-08-20 18:04:47 (UTC+8)
摘要:	Glutaryl-CoA dehydrogenase (GCDH) deficiency causes glutaric academia type I (GA-I), an inborn error of metabolism that is characterized clinically by dystonia and dyskinesia and pathologically by neural degeneration of the caudate nucleus and putamen. We report a case of GA-I in a 4-year-old boy. Analysis of blood acylcarnitines by tandem mass spectrometry (MS/MS) revealed a high concentration of glutarylcarnitine in the blood (0.59 microM). Organic acid analysis of urine via gas chromatography mass spectrometry revealed glutaric acid and 3-hydroxyglutaric acids. In order to search for mutations, the GCDH gene of the patient and his parents were amplified by polymerase chain reaction and subjected to direct sequencing. Two mutations were detected in the patient's GCDH gene. One was located in exon 7 (T713C), which caused a codon 238 leucine to proline substitution; the other was located in intron 10 (IVS10-2 A-to-C), and caused a splicing variation in intron 10 and exon 11. Genetic amniocentesis was requested when the patient's mother became pregnant again, but the fetus did not carry any mutation. Tandem mass spectrometry was successfully used to make the diagnosis of GA-I in this case via identification of genetic mutation. If GA-I can be diagnosed in the early onset or presymptomatic stage, effective therapy would reduce sequelae.
關聯:	JOURNAL OF THE FORMOSAN MEDICAL ASSOCIATION 103(7):549~554
显示于类别:	[學士後中醫學系] 期刊論文

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