Hereditary complete deficiency of lactate dehydrogenase H-subunit.
Hereditary complete deficiency of lactate dehydrogenase H-subunit.
复制标题
遗传性乳酸脱氢酶 H 亚基完全缺乏。
DOI：
10.1093/clinchem/35.4.687
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发表时间：
1989
影响因子：
9.3
通讯作者：
M. Kitamura
中科院分区：
文献类型：
--
作者：
R. Joukyuu;S. Mizuno;T. Amakawa;T. Tsukada;T. Nishina;M. Kitamura
我们报告了第二例已知患者，她是一名 45 岁的日本女性，患有遗传性乳酸脱氢酶（LDH；EC 1.1.1.27）H 亚基完全缺乏症。她血清中的总 LDH 活性异常低（35 U/L，正常参考区间 195-360）。她的红细胞中的 LDH 活性也很低，但红细胞中的所有其他糖酵解酶活性都在正常范围内。她的血清、红细胞、淋巴细胞、血小板和唾液的电泳仅显示一条带，即 LDH M4 同工酶。她的唾液和淋巴细胞中的LDH活性超出了参考区间。红细胞含果糖1,6-二磷酸26μmol/L（正常范围4-13），磷酸二羟丙酮75μmol/L（正常范围8-22），甘油醛3-磷酸57μmol/L（正常范围4-14），丙酮酸45μmol/L（正常范围31-63）。三代的家族研究表明，这种缺陷是以常染色体隐性方式遗传的。
We report the second known case of a patient, a 45-year-old Japanese woman, with hereditary complete deficiency of lactate dehydrogenase (LDH; EC 1.1.1.27) H-subunit. Total LDH activity in her serum was abnormally low (35 U/L, normal reference interval 195-360). LDH activity in her erythrocytes was also low, but all the other glycolytic enzyme activities in her erythrocytes were within normal limits. Electrophoresis of her serum, erythrocytes, lymphocytes, thrombocytes, and saliva showed only one band, the LDH M4 isoenzyme. LDH activities in her saliva and lymphocytes exceeded the reference interval. Her erythrocytes contained fructose 1,6-diphosphate 26 mumol/L (normal range 4-13), dihydroxyacetone phosphate 75 mumol/L (normal range 8-22), glyceraldehyde 3-phosphate 57 mumol/L (normal range 4-14), and pyruvate 45 mumol/L (normal range 31-63). The family study of three generations showed that this deficiency was inherited in an autosomal recessive mode.