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We examined a logic to detect lactate dehydrogenase (LDH) subunit deficiency heterozygote. From laboratory screening, simulation of subunit deficiency, and family analyses, subunit deficiency did not always show low serum LDH activity, however, showed a characteristically unusual serum LDH isozyme pattern. By western blotting using anti-H subunit antibody, we tried to detect LDH isozyme I and II in red blood cells. The results were that there was no heterotetramer with normal H subunit in M subunit deficiency homozygote. Additionally, making a comparison between activity and protein concentration, there was no variant M subunit in M subunit deficiency heterozygote, while, there is variant H subunit in H subunit deficiency heterozygote

Laboratory and immunological assessment in lactate dehydrogenase subunit deficiency.