Lactate dehydrogenase deficiency

Deficiencies of enzymes involved in glycolysis, the hexose monophosphate pathway, the closely related glutathione metabolism and synthesis, and nucleotide metabolism have emerged as causes of hereditary nonspherocytic hemolytic anemias (Table 1) (F10, Fll, M27). Some enzyme deficiencies, such as diphospho-glycerate mutase deficiency, lactate dehydrogenase deficiency, and NADH cy-... 

Lactate dehydrogenase deficiency is an autosomal recessive myopathy caused by a genetic defect of the muscle subunit, which is encoded by a gene on chromosome 11 (type XI, Fig. 42-1). Thus far, several Japanese families and two Caucasian patients with this disease have been described. The clinical picture is characterized by cramps and myoglobinuria after intense exercise. 

Hillman JD, Andrews SW and Dzuback AL (1987) Acetoin production by wild-type strains and a lactate dehydrogenase-deficient mutant of Streptococcus mutans. Infect Immun 55, 1399-1402. 

Lactate dehydrogenase deficiency interferes with the processing of carbohydrates for energy production and the conversion of pyruvate to lactate, and vice versa. Onset is early adulthood. 

Acetate was the main hy-product with a yield of 0.08-0.11 g/g (Table 1). High initial acetate concentrations (2.86-6.02 g/1) in the feed streams resulted in a rather high concentration of nearly 10 g/1 acetate in the effluent at the highest WEH concentration tested (Table 1). In all fermentations, only trace amounts of lactate were produced (<0.03 g/g, data not shown) as expected, because the strain is a lactate dehydrogenase-deficient mutant These data also show that deletion of the lactate dehydrogenase was stable over a long period of time. 

K15. Kanno, T., Sudo, K., Takeuchi, I., Kanda, S., Honda, N Nishimura, Y., and Oyama, K., Hereditary deficiency of lactate dehydrogenase M-subunit. Clin. Chim. Acta 108,267-276 (1980). 

K16. Kanno, T., and Maekawa, M Lactate dehydrogenase M-subunit deficiencies Clinical features, metabolic background, and genetic heterogeneities. Muscle Nerve (Suppl. 3), S54-S60 (1995). 

K21. Kitamura, M., Iijima, N Hashimoto, F., and Hiratsuka, A., Hereditary deficiency of subunit H of lactate dehydrogenase. Clin. Chim. Acta 34,419-423 (1971). 

M5. Maekawa, M Sudo, K., Kanno, T., and Li, S. S.-L., Molecular characterization of genetic mutation in human lactate dehydrogenase-A (M) deficiency. Biochem. Biophys. Res. Commun. 168, 677-682 (1990). 

Gaspar, P., Neves, A. R., Ramos, A., Gasson, M. J., Shearman, C. A., and Santos, H. 2004. Engineering Lactococcus lactis for production of mannitol high yields from food-grade strains deficient in lactate dehydrogenase and the mannitol transport system. App. Environ. Microbiol., 70,1466-1474. 

Hols, P., Ramos, A., Hugenholtz, J., Delcour, I, De Vos, W. M., Santos, H., and Kleerebezem, M. 1999. Acetate utilization in Lactococcus lactis deficient in lactate dehydrogenase A rescue pathway for maintaining redox balance. J. Bacteriol., 181, 5521-5526. 

Lactate dehydrogenase (LD) catalyzes the conversion of pyruvate to lactate, the last step in the BMP. Deficiency of this enzyme is not associated with hematological disease. LD is described elsewhere. 

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