1ST CASE OF A COMPLETE DEFICIENCY OF DIPHOSPHOGLYCERATE MUTASE IN HUMAN ERYTHROCYTES
1ST CASE OF A COMPLETE DEFICIENCY OF DIPHOSPHOGLYCERATE MUTASE IN HUMAN ERYTHROCYTES
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DOI：
10.1172/jci109218
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发表时间：
1978-01-01
影响因子：
15.9
通讯作者：
ROSA, J
中科院分区：
文献类型：
--
作者：
ROSA, R;PREHU, MO;ROSA, J
在一例血Hb浓度为19.0g/dl的42岁法裔男子的红细胞中发现了遗传性的完全缺失的二磷酸甘油酸变位酶[EC2.7.5.4]。经体检，他的身体状况正常，只是面色发紫。红细胞形态正常，无溶血迹象。红细胞2，3-二磷酸甘油酸水平低于正常值的3%，因此，细胞对O2的亲和力增加。红细胞中未检测到二磷酸甘油酸变位酶的活性，二磷酸甘油酸磷酸酶的活性也未检测到[EC 3.1.3.13]。除单磷酸甘油酸变位酶[EC2.7.5.3]降至正常值的1/2外，其余各红细胞酶活性均正常。还原型谷胱甘肽、三磷酸腺苷、1，6-二磷酸果糖和磷酸三糖升高，葡萄糖、6-磷酸果糖和6-磷酸果糖降低。这份报告揭示了二磷酸甘油酸变位酶在红细胞新陈代谢中的作用。
An inherited and complete deficiency of diphosphoglycerate mutase [EC 2.7.5.4] was discovered in the erythrocytes of a 42 yr old man of French origin whose blood Hb concentration was 19.0 g/dl. Upon physical examination he was normal with the exception of a ruddy cyanosis. The morphology of this erythrocytes was normal, with no evidence of hemolysis. The erythrocyte 2,3-diphosphoglycerate level was below 3% of normal values and, as a consequence, the affinity of the cells for O2 was increased. Diphosphoglycerate mutase activity was undetectable in erythrocytes as was that of diphosphoglycerate phosphatase [EC 3.1.3.13]. The activities of all the other erythrocyte enzymes that were tested were normal except for monophosphoglycerate mutase [EC 2.7.5.3] which was diminished to 1/2 the normal value. The levels of reduced glutathione, ATP, fructose 1,6-diphosphate and triose phosphates were elevated, whereas those of glucose 6-phosphate and fructose 6-phosphate were decreased. This report sheds new light on the role of diphosphoglycerate mutase in the metabolism of erythrocytes.