由DPYD基因的新型基因组缺失c.505_513del引起的二氢嘧啶脱氢酶缺乏症。
Dihydropyrimidine dehydrogenase deficiency caused by a novel genomic deletion c.505_513del of DPYD.
作者信息
van Kuilenburg A B P, Meijer J, Gökcay G, Baykal T, Rubio-Gozalbo M E, Mul A N P M, de Die-Smulders C E M, Weber P, Mori A Capone, Bierau J, Fowler B, Macke K, Sass J O, Meinsma R, Hennermann J B, Miny P, Zoetekouw L, Roelofsen J, Vijzelaar R, Nicolai J, Hennekam R C M
机构信息
Academic Medical Center, Amsterdam, the Netherlands.
出版信息
Nucleosides Nucleotides Nucleic Acids. 2010 Jun;29(4-6):509-14. doi: 10.1080/15257771003730227.
Dihydropyrimidine dehydrogenase (DPD) deficiency is an autosomal recessive disorder of the pyrimidine degradation pathway. In a patient presenting with convulsions, psychomotor retardation and Reye like syndrome, strongly elevated levels of uracil and thymine were detected in urine. No DPD activity could be detected in peripheral blood mononuclear cells. Analysis of the gene encoding DPD (DPYD) showed that the patient was homozygous for a novel c.505_513del (p.169_171del) mutation in exon 6 of DPYD.
二氢嘧啶脱氢酶（DPD）缺乏症是嘧啶降解途径的一种常染色体隐性疾病。在一名出现惊厥、精神运动发育迟缓及瑞氏综合征样症状的患者中，尿液中检测到尿嘧啶和胸腺嘧啶水平显著升高。在外周血单核细胞中未检测到DPD活性。对编码DPD的基因（DPYD）进行分析显示，该患者在DPYD外显子6中存在一种新的c.505_513del（p.169_171del）突变的纯合子状态。
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