DIABETES-MELLITUS, THIAMINE-DEPENDENT MEGALOBLASTIC-ANEMIA, AND SENSORINEURAL DEAFNESS ASSOCIATED WITH DEFICIENT ALPHA-KETOGLUTARATE DEHYDROGENASE-ACTIVITY
DIABETES-MELLITUS, THIAMINE-DEPENDENT MEGALOBLASTIC-ANEMIA, AND SENSORINEURAL DEAFNESS ASSOCIATED WITH DEFICIENT ALPHA-KETOGLUTARATE DEHYDROGENASE-ACTIVITY
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DOI：
10.1016/s0022-3476(85)80011-1
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发表时间：
1985-01-01
影响因子：
5.1
通讯作者：
NAJJAR, SS
中科院分区：
文献类型：
--
作者：
ABBOUD, MR;ALEXANDER, D;NAJJAR, SS
报告三兄弟患有糖尿病、硫胺素反应性巨幼细胞性贫血和感觉神经性耳聋。此外，两名患者还患有先天性间隔缺陷。1例患者检测到硫胺素依赖酶的活性，显示α-酮戊二酸脱氢酶活性较低，这可能是铁粒母细胞贫血继发巨幼细胞改变的原因。贫血是硫胺素依赖的。糖尿病的病因尚不清楚，但不是1型。
Three brothers with diabetes mellitus, thiamine-responsive megaloblastic anemia, and senorineural deafness are reported. Two had, in addition, congenital septal defects. The activities of thiamine-dependent enzymes were determined in one patient, revealing low .alpha.-ketoglutarate dehydrogenase activity, which could have caused a sideroblastic anemia with secondary megaloblastic changes. The anemia was thiamine dependent. The cause of the diabetes mellitus was not known, but it was not type 1.