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。

Elevated urine, blood and cerebrospinal fluid levels of uracil and thymine in a child with dihydrothymine dehydrogenase deficiency.

作者信息

Bakkeren J A, De Abreu R A, Sengers R C, Gabreëls F J, Maas J M, Renier W O

出版信息

Clin Chim Acta. 1984 Jul 31;140(3):247-56. doi: 10.1016/0009-8981(84)90206-7.

Abstract

In the urine of a child with unexplained convulsions large amounts of uracil and thymine were detected by gas chromatography. Identification was performed by coupled gas chromatography-mass spectrometry. Quantitation of the urinary excretion by means of a sensitive high-performance liquid chromatographic (HPLC) method revealed a 1000-fold elevation compared to normal. Serum and cerebrospinal fluid levels of the two pyrimidine bases were about a hundred times higher than normal. In fibroblasts the activity of dihydrothymine dehydrogenase was determined by measuring the conversion of radioactive labelled thymine to dihydrothymine with HPLC of the reaction mixture. In the patient's cells a complete deficiency of dihydrothymine dehydrogenase activity was found. Our patient is the first case described with such a proven enzyme deficiency.

摘要

通过气相色谱法在一名不明原因惊厥儿童的尿液中检测到大量尿嘧啶和胸腺嘧啶。通过气相色谱 - 质谱联用进行鉴定。采用灵敏的高效液相色谱（HPLC）法对尿排泄量进行定量分析，结果显示与正常情况相比升高了1000倍。这两种嘧啶碱基的血清和脑脊液水平比正常情况高约一百倍。在成纤维细胞中，通过用反应混合物的HPLC测量放射性标记的胸腺嘧啶向二氢胸腺嘧啶的转化来测定二氢胸腺嘧啶脱氢酶的活性。在患者细胞中发现二氢胸腺嘧啶脱氢酶活性完全缺乏。我们的患者是首例报道的具有这种已证实的酶缺乏症的病例。