A family with a case of deficiency of lactate dehydrogenase H-subunit.
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概要
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We describe, to our knowledge, the third case of deficiency of lactate dehydrogenase (LDH; EC 1.1.1.27) H-subunit. LDH activities in the patient serum and erythrocytes were abnormally low, but the other glycolytic enzyme activities were almost within normal limits in the erythrocytes. The LDH isoenzyme patterns of the patient serum, lymphocytes and saliva showed only one band of LDH5. On the other hand, the LDH electrophoretogram of the patient erythrocytes and thrombocytes showed two bands consisting of LDH4 and LDH5. The patient erythrocytes contained high concentrations of fructose-1, 6-diphosphate, dihydroxyacetone phosphate and glyceraldehyde-3-phosphate. From a family study on two generations, we concluded that the propositus was homozygous of the deficiency, whereas three family members were heterozygous.
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