CLINICAL SYMPTOMS AND BIOCHEMICAL-PROPERTIES OF 3 NEW GLUCOSEPHOSPHATE ISOMERASE VARIANTS
CLINICAL SYMPTOMS AND BIOCHEMICAL-PROPERTIES OF 3 NEW GLUCOSEPHOSPHATE ISOMERASE VARIANTS
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DOI：
10.1007/bf00320579
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发表时间：
1986-07-01
期刊：
影响因子：
--
通讯作者：
SCHROTER, W
中科院分区：
文献类型：
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作者：
EBER, SW;GAHR, M;SCHROTER, W
磷酸葡萄糖异构酶缺乏症是引起先天性大红细胞非球形红细胞溶血性贫血的原因。变体葡萄糖磷酸异构酶的生化特性表明患者具有新的变体，命名为GPI基尔、GPI汉堡和GPI洪堡。临床症状的严重程度取决于残余GPI活性的量和变异酶的生化性质。因此，具有基尔型GPI（34%残余活性）的患者（其变体GPI稍微不稳定）表现出轻度慢性溶血性贫血。GPI洪堡（7%残留活性）患者的变异酶稳定，比活性降低，患有严重的先天性溶血性贫血和神经肌肉症状。由于GPI洪堡的特殊性质，我们假设GPI洪堡患者的血液学和神经肌肉症状都是由其GPI缺乏引起的。患有GPI Hamburg（27%剩余活性）的双胞胎具有明显不稳定的变异酶，并且自出生以来就患有溶血危机。只有GPI洪堡表现出电泳迁移率的改变和对6-磷酸果糖的亲和力的增加。其他两种变体具有正常值。
Glucosephosphate isomerase deficiency as the cause of macrocytic congenital nonspherocytic hemolytic anemia is described in three unrelated families. The biochemical properties of the variant glucosephosphate isomerases indicate that the patients have new variants, designated as GPI Kiel, GPI Hamburg, and GPI Homburg. The severity of the clinical symptoms depended on the amount of residual GPI activity and the biochemical properties of the variant enzyme. Thus, the patient with GPI Kiel (34% residual activity) whose variant GPI was slightly unstable showed a mild chronic hemolytic anemia. The patient with GPI Homburg (7% residual activity) whose variant enzyme was stable and had a reduced specific activity, suffered from severe congenital hemolytic anemia and neuromuscular symptoms. Due to the special properties of GPI Homburg, we assume that both the hematological and neuromuscular symptoms of the patient with GPI Homburg are caused by his GPI deficiency. The twins with GPI Hamburg (27% residual activity) had a distinctly unstable variant enzyme and had suffered from hemolytic crises since birth. Only GPI Homburg showed an altered electrophoretic mobility and an increased affinity for fructose-6-phosphate. The other two variants had normal values.