Mills G C, Schmalstieg F C, Trimmer K B, Goldman A S, Goldblum R M
Proc Natl Acad Sci U S A. 1976 Aug;73(8):2867-71. doi: 10.1073/pnas.73.8.2867.
Purine and pyrimidine metabolites were measured in erythrocytes, plasma, and urine of a 5-month-old infant with adenosine deaminase (adenosine aminohydrolase, EC 3.5.4.4) deficiency. Adenosine and adenine were measured using newly devised ion exchange separation techniques and a sensitive fluorescence assay. Plasma adenosine levels were increased, whereas adenosine was normal in erythrocytes and not detectable in urine. Increased amounts of adenine were found in erythrocytes and urine as well as in the plasma. Erythrocyte adenosine 5'-monophosphate and adenosine diphosphate concentrations were normal, but adenosine triphosphate content was greatly elevated. Because of the possibility of pyrimidine starvation, pyrimidine nucleotides (pyrimidine coenzymes) in erythrocytes and orotic acid in urine were measured. Pyrimidine nucleotide concentrations were normal, while orotic acid was not detected. These studies suggest that the immune deficiency associated with adenosine deaminase deficiency may be related to increased amounts of adenine, adenosine, or adenine nucleotides.
对一名患有腺苷脱氨酶（腺苷氨基水解酶，EC 3.5.4.4）缺乏症的5个月大婴儿的红细胞、血浆和尿液中的嘌呤和嘧啶代谢产物进行了检测。使用新设计的离子交换分离技术和灵敏的荧光测定法对腺苷和腺嘌呤进行了检测。血浆腺苷水平升高，而红细胞中的腺苷正常，尿液中未检测到腺苷。在红细胞、尿液以及血浆中均发现腺嘌呤含量增加。红细胞中腺苷5'-单磷酸和二磷酸腺苷浓度正常，但三磷酸腺苷含量大幅升高。由于存在嘧啶饥饿的可能性，对红细胞中的嘧啶核苷酸（嘧啶辅酶）和尿液中的乳清酸进行了检测。嘧啶核苷酸浓度正常，未检测到乳清酸。这些研究表明，与腺苷脱氨酶缺乏相关的免疫缺陷可能与腺嘌呤、腺苷或腺嘌呤核苷酸含量增加有关。
