1.
Intern Med
; 35(7): 550-4, 1996 Jul.
Artigo
em Inglês
| MEDLINE
| ID: mdl-8842761
RESUMO
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.
Assuntos
L-Lactato Desidrogenase/deficiência , L-Lactato Desidrogenase/genética , Consanguinidade , Diabetes Mellitus/enzimologia , Fosfato de Di-Hidroxiacetona/sangue , Eritrócitos/enzimologia , Feminino , Frutosedifosfatos/sangue , Genes Recessivos , Gliceraldeído 3-Fosfato/sangue , Glicólise , Hemólise , Heterozigoto , Homozigoto , Humanos , Isoenzimas , L-Lactato Desidrogenase/química , Masculino , Pessoa de Meia-Idade , Linhagem , Conformação Proteica
2.
Nihon Naika Gakkai Zasshi
; 69(6): 738-44, 1980 Jun 06.
Artigo
em Japonês
| MEDLINE
| ID: mdl-6106034