title: Hereditary deficiency of lactate dehydrogenase H-subunit.
abstract: We report herein the fifth family of hereditary deficiency of lactate dehydrogenase (LDH) H-subunit with an autosomal recessive inheritance including two cases of complete deficiency. Their LDH activities were low both in the serum and in the red blood cells (RBC). Electrophoretic analysis revealed that the patients with the complete deficiency had only the LDH5 isozyme. The complete deficiency was associated with marked elevation of fructose-1, 6-diphosphate (FDP) and dihydroxyacetonephosphate (DHAP) and a less marked rise in glyceraldehyde-3-phosphate (GA3P) among glycolytic intermediates in the RBC. Furthermore, hemolysis was observed in the present cases, but this finding was not included in the other reports.
authors.affiliation: Department of Internal Medicine, Shigei Hospital, Kurashiki.
authors.forename: H
authors.initials: H
authors.lastname: Wakabayashi
authors.forename: M
authors.initials: M
authors.lastname: Tsuchiya
authors.forename: K
authors.initials: K
authors.lastname: Yoshino
authors.forename: K
authors.initials: K
authors.lastname: Kaku
authors.forename: H
authors.initials: H
authors.lastname: Shigei
mesh_terms: D003241:Consanguinity; D003920:Diabetes Mellitus / Q000201:enzymology; D004099:Dihydroxyacetone Phosphate / Q000097:blood; D004912:Erythrocytes / Q000201:enzymology; D005260:Female; D005635:Fructosediphosphates / Q000097:blood; D005808:Genes, Recessive; D005986:Glyceraldehyde 3-Phosphate / Q000097:blood; D006019:Glycolysis; D006461:Hemolysis; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D007527:Isoenzymes; D007770:L-Lactate Dehydrogenase / Q000737:chemistry / Q000172:deficiency* / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D011487:Protein Conformation
chemical_list: D005635:Fructosediphosphates; D007527:Isoenzymes; D005986:Glyceraldehyde 3-Phosphate; D004099:Dihydroxyacetone Phosphate; D007770:L-Lactate Dehydrogenase; C029063:fructose-1,6-diphosphate