Key result
Case report describes complete hereditary deficiency of LDH H-subunit with autosomal recessive inheritance.
Why the study?
Hereditary complete deficiency of lactate dehydrogenase H-subunit is extremely rare with only one previously reported case.
Case Report (n=1)
This report describes the second known case of hereditary complete deficiency of the LDH H-subunit, confirming its autosomal recessive inheritance pattern.
Answers are grounded in this paper and cite their sources.
Case report of hereditary LDH-H deficiency; leaves open its prevalence, phenotypic spectrum, and clinical implications.
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.
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Joukyuu et al. (1989) conducted a case report in Hereditary complete deficiency of lactate dehydrogenase H-subunit (n=1). Hereditary complete deficiency of lactate dehydrogenase H-subunit was evaluated on LDH activity and isoenzyme pattern. A 45-year-old Japanese woman was identified with hereditary complete deficiency of lactate dehydrogenase H-subunit, which was shown to be inherited in an autosomal recessive mode.
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