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A new case of dihydropyrimidine dehydrogenase deficiency.

作者信息

Brockstedt M, Jakobs C, Smit L M, van Gennip A H, Berger R

机构信息

Dept. of Pediatrics, Free University Hospital, Amsterdam, The Netherlands.

出版信息

J Inherit Metab Dis. 1990;13(1):121-4. doi: 10.1007/BF01799339.

DOI:10.1007/BF01799339
PMID:2109146
Abstract

We present the clinical and biochemical features of a boy with dihydropyrimidine dehydrogenase deficiency, which seem to underline a disease entity of developmental retardation, epilepsy and muscular hypertonia.

摘要

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本文引用的文献

1
Purification and properties of dihydrothymine dehydrogenase from rat liver.大鼠肝脏二氢胸腺嘧啶脱氢酶的纯化及性质
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Linear relationship between the R- and S-enantiomers of a beta-aminoisobutyric acid in human urine.人尿中β-氨基异丁酸R-和S-对映体之间的线性关系。
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Dihydropyrimidine dehydrogenase deficiency leading to thymine-uraciluria. An inborn error of pyrimidine metabolism.
嘧啶降解的先天性代谢缺陷：临床、生化及分子学方面
J Inherit Metab Dis. 1997 Jun;20(2):203-13. doi: 10.1023/a:1005356806329.
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Clinical and biochemical findings in six patients with pyrimidine degradation defects.
J Inherit Metab Dis. 1994;17(1):130-2. doi: 10.1007/BF00735416.
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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.
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The first prenatal diagnosis of dihydropyrimidine dehydrogenase deficiency.二氢嘧啶脱氢酶缺乏症的首例产前诊断。
Eur J Pediatr. 1991 Feb;150(4):291. doi: 10.1007/BF01955535.
Clin Chim Acta. 1984 Aug 31;141(2-3):227-34. doi: 10.1016/0009-8981(84)90014-7.
4
Elevated urine, blood and cerebrospinal fluid levels of uracil and thymine in a child with dihydrothymine dehydrogenase deficiency.一名患有二氢胸腺嘧啶脱氢酶缺乏症的儿童尿液、血液和脑脊液中尿嘧啶和胸腺嘧啶水平升高。
Clin Chim Acta. 1984 Jul 31;140(3):247-56. doi: 10.1016/0009-8981(84)90206-7.
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The activities of thymidine metabolising enzymes during the cell cycle of a human lymphocyte cell line LAZ-007 synchronised by centrifugal elutriation.
Biochim Biophys Acta. 1980 Dec 15;633(3):400-9. doi: 10.1016/0304-4165(80)90198-1.
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Reduction of thymine by leukocytes.白细胞对胸腺嘧啶的还原作用。
Biochem Genet. 1968 Jun;2(1):93-9. doi: 10.1007/BF01458454.
7
Dihydropyrimidine dehydrogenase deficiency--a further case.
J Inherit Metab Dis. 1985;8 Suppl 2:115-6. doi: 10.1007/BF01811485.
8
Dihydropyrimidine dehydrogenase deficiency leading to thymine-uraciluria. An inborn error of pyrimidine metabolism.
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9
beta-Aminoisobutyric acid as a marker of thymine catabolism in malignancy.β-氨基异丁酸作为恶性肿瘤中胸腺嘧啶分解代谢的标志物。
Clin Chim Acta. 1987 Jun 15;165(2-3):365-77. doi: 10.1016/0009-8981(87)90182-3.
10
Familial deficiency of dihydropyrimidine dehydrogenase. Biochemical basis for familial pyrimidinemia and severe 5-fluorouracil-induced toxicity.二氢嘧啶脱氢酶家族性缺乏。家族性嘧啶血症和严重5-氟尿嘧啶诱导毒性的生化基础。
J Clin Invest. 1988 Jan;81(1):47-51. doi: 10.1172/JCI113308.