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Dihydropyrimidinase deficiency presenting in infancy with severe developmental delay.

作者信息

Henderson M J, Ward K, Simmonds H A, Duley J A, Davies P M

机构信息

Department of Chemical Pathology, St. James's Hospital, Leeds, UK.

出版信息

J Inherit Metab Dis. 1993;16(3):574-6. doi: 10.1007/BF00711685.

DOI:10.1007/BF00711685
PMID:7541877
Abstract
摘要

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1
Dihydropyrimidinase deficiency presenting in infancy with severe developmental delay.二氢嘧啶酶缺乏症在婴儿期表现为严重发育迟缓。
J Inherit Metab Dis. 1993;16(3):574-6. doi: 10.1007/BF00711685.
2
Dihydropyrimidinase deficiency, a progressive neurological disorder?二氢嘧啶酶缺乏症，一种进行性神经疾病？
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[Dihydropyrimidinase deficiency (dihydropyrimidinuria)].二氢嘧啶酶缺乏症（二氢嘧啶尿症）
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Screening for biotinidase deficiency in children with unexplained neurologic or developmental abnormalities.对患有不明原因神经或发育异常的儿童进行生物素酶缺乏症筛查。
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Dihydropyrimidinuria: a new inborn error of pyrimidine metabolism.
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Rhombencephalosynapsis: a rare congenital anomaly presenting with seizure and developmental delay.菱脑融合：一种以癫痫发作和发育迟缓为表现的罕见先天性异常。
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Screening and diagnosis of beta-ureidopropionase deficiency by gas chromatographic/mass spectrometric analysis of urine.通过尿液气相色谱/质谱分析筛查和诊断β-脲基丙酸酶缺乏症
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Urinary Metabolic Profiling During Epileptogenesis in Rat Model of Lithium-Pilocarpine-Induced Temporal Lobe Epilepsy.锂-匹罗卡品诱导的大鼠颞叶癫痫模型癫痫发生过程中的尿液代谢谱分析
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The diagnostic odyssey of a patient with dihydropyrimidinase deficiency: a case report and review of the literature.患有嘧啶二羧酸酶缺乏症患者的诊断之旅：病例报告及文献复习。
Cold Spring Harb Mol Case Stud. 2024 Jan 10;9(4). doi: 10.1101/mcs.a006319. Print 2023 Dec.
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A novel stop-gain mutation in DPYS gene causing Dihidropyrimidinase deficiency, a case report.

本文引用的文献

1
A new case of dihydropyrimidine dehydrogenase deficiency.
J Inherit Metab Dis. 1990;13(1):121-4. doi: 10.1007/BF01799339.
2
Dihydropyrimidinuria: a new inborn error of pyrimidine metabolism.
J Inherit Metab Dis. 1991;14(3):367-70. doi: 10.1007/BF01811705.
一个导致二氢嘧啶酶缺乏症的 DPYS 基因新型移码突变：病例报告。
BMC Med Genet. 2020 Jun 29;21(1):138. doi: 10.1186/s12881-020-01070-6.
4
Dihydropyrimidinase protects from DNA replication stress caused by cytotoxic metabolites.二氢嘧啶酶可防止细胞毒性代谢物引起的 DNA 复制应激。
Nucleic Acids Res. 2020 Feb 28;48(4):1886-1904. doi: 10.1093/nar/gkz1162.
5
Altered Pre-mRNA Splicing Caused by a Novel Intronic Mutation c.1443+5G>A in the Dihydropyrimidinase (DPYS) Gene.二氢嘧啶酶（DPYS）基因中一个新的内含子突变c.1443+5G>A导致的前体mRNA剪接改变
Int J Mol Sci. 2016 Jan 12;17(1):86. doi: 10.3390/ijms17010086.
6
Genetic polymorphisms of dihydropyrimidinase in a Japanese patient with capecitabine-induced toxicity.一名日本患者中卡培他滨诱导毒性相关的二氢嘧啶酶基因多态性
PLoS One. 2015 Apr 27;10(4):e0124818. doi: 10.1371/journal.pone.0124818. eCollection 2015.
7
Dihydropyrimidinase deficiency: the first feline case of dihydropyrimidinuria with clinical and molecular findings.二氢嘧啶酶缺乏症：首例伴有临床和分子学发现的猫二氢嘧啶尿症病例。
JIMD Rep. 2012;6:21-6. doi: 10.1007/8904_2012_139. Epub 2012 Mar 29.
8
Dihydropyrimidinase deficiency and congenital microvillous atrophy: coincidence or genetic relation?二氢嘧啶酶缺乏症与先天性微绒毛萎缩：巧合还是遗传关系？
J Inherit Metab Dis. 1997 Sep;20(5):681-8. doi: 10.1023/a:1005374426168.
9
Dihydropyrimidinase deficiency: confirmation of the enzyme defect in dihydropyrimidinuria.
J Inherit Metab Dis. 1997 Jul;20(3):339-42. doi: 10.1023/a:1005309423960.
10
Inherited defects of purine and pyrimidine metabolism: laboratory methods for diagnosis.嘌呤和嘧啶代谢的遗传性缺陷：诊断的实验室方法
J Inherit Metab Dis. 1997 Jun;20(2):227-36. doi: 10.1023/a:1005360907238.