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Muscle phosphofructokinase deficiency

Type VII Tarul s disease Deficiency of phosphofructokinase in muscle and erythrocytes As for type V but also possibility of hemolytic anemia. [Pg.152]

HI. Hamaguchi, T Nakajima, H., Noguchi, T., Ono, A., Kono, N., Tarui, S., Kuwajima, M., and Matsuzawa, Y., A new variant of muscle phosphofructokinase deficiency in a Japanese case with abnormal splicing. Biochem. Biophys. Res. Commun. 202,444-449 (1994). [Pg.42]

N2. Nakajima, H., Kono, N Yamasaki, T Hotta, K., Kawachi, M Kuwajima, M., Noguchi, T., Tanaka, T., and Tarui, S Genetic defect in muscle phosphofructokinase deficiency Abnormal splicing of the muscle phosphofructokinase gene due to a point mutation at the 5 -splice site. J. Biol. Chem. 265, 9392-9395 (1990). [Pg.47]

T14. Tarui, S., Okuno, G., Ikuno, Y Tanaka, T Suda, M and Nishikawa, M., Phosphofructokinase deficiency in skeletal muscle. A new type of glycogenesis. Biochem. Biophys. Res. Commun. 19,517-523(1965). [Pg.52]

T23. Tsujino, S Servidei, S Tonin, P., Shanske, S., Azan, G., and DiMauro, S., Identification of three novel mutations in non-Ashkenazi Italian patients with muscle phosphofructokinase deficiency. Am. J. Hum. Genet. 54,812-819 (1994). [Pg.52]

Phosphofructokinase is the enzyme deficient in glycolysis leading to glycogenosis type VII (GSD VII, M. Tarui, MIM 232 800). The enzyme in its active form is a tetra-mer, composed of three different subunits M (muscle), L (liver), and P or F (platelets, fibroblasts). The enzyme is found in different compositions in different tissues, as shown in Table 4.6.16. In glycogenosis type VII the enzyme deficiency can only be determined in muscle, because only the deficiency of the M form leads to GSD VII. [Pg.460]

A different problem results from deficiency of enzymes of glycolysis such as phosphofructokinase (see Box 20-D), phosphoglycerate rnutase, and pyruvate kinase. Lack of one isoenzyme of phosphoglycerate rnutase in muscle leads to intolerance to strenuous exercise/ A deficiency in pyruvate kinase is one of the most common defects of glycolysis in erythrocytes and leads to a shortened erythrocyte lifetime and hereditary hemolytic anemia.s... [Pg.1002]

Chance, B., Eleff, S., Bank, W Leigh, J.S., Wamell, R. (1982). 3IP NMR studies of control of mitochondrial function in phosphofructokinase-deficient human skeletal muscle. Proc. Natl. Acad. Sci. USA 79, 7714-7718. [Pg.264]

Phosphofructokinase deficiency (Tarui s disease) is an inborn error of glycogen metabolism characterised by a phosphofructokinase deficiency in the muscles, and associated with abnormal deposition of glycogen in muscle tissues, occasionally with myoglobinuria. The symptoms are similar to those seen in McArdle s disease. Classic Tarui s disease typically presents in childhood with exercise intolerance and anaemia. The fatal infantile variant presents in the first year of life. All reported patients have died by age four years. A late-onset variant manifests itself during later adulthood with progressive limb weakness without myoglobinuria or cramps. It is an autosomal recessive inheritance. Males are slightly more often affected than females. [Pg.271]

Phosphofructokinase deficiency (OMIM 171850) is a rare autosomal recessively inherited disorder. Since red cells contain both M and L submits, mutations affecting the genes coding for these subunits wfil affect enzyme activity. Thus when the PFK deficiency mutation affects only the L subunit, RBCs have only M4 and are PFK deficient. In such cases, there is a mild hemolytic disorder without myopathy. However, when the M subunit is deficient, muscle PFK is virtually absent together with partial PFK deficiency in RBCs, which wfil have only L. Therefore deficiency of the M subunit causes myopathy and a mild hemolytic disorder. [Pg.628]

Some enzymopathies of erythrocytes may be associated with multisystem disease (e.g., aldolase deficiency with mental and growth retardation). Individuals with 6-phosphofructokinase deficiency exhibit hemolysis and myopathy and have increased deposition of muscle glycogen (a glycogen storage disease see Chapter 15). The myopathy is usually characterized by muscle weakness and exercise intolerance. (See also Chapters 10, 15, and 28.)... [Pg.235]

GSD type VII, Tarui sdisease Muscle phosphofructokinase deficiency causes pronounced decrease in exercise tolerance. [Pg.477]

Table 15.14. Glycogen storage disease type 7 (muscle phosphofructokinase deficiency) ... Table 15.14. Glycogen storage disease type 7 (muscle phosphofructokinase deficiency) ...
In 1965 Japanese workers [128] identified a deficiency in muscle of phosphofructokinase, another glycolytic enzyme the symptoms were quite similar to those of muscle phosphorylase deficiency. The enzyme was also low in erythrocytes. Inheritance is probably autosomal recessive and a small number of other cases have since been reported. A late-onset muscle disorder in two brothers associated with a low activity of phosphohexoseisomerase in the muscle has been reported in another Japanese family [129]. [Pg.62]

Fig. 12. Phosphorus-31 spectra and muscle pH values obtained from forearm muscles of a patient with phosphofructokinase deficiency. Peak assignments a, SP b, Pj c, PCr, d, e, f, y-, a-, and phosphates of ATP, respectively. From Edwards et al. (1982). Fig. 12. Phosphorus-31 spectra and muscle pH values obtained from forearm muscles of a patient with phosphofructokinase deficiency. Peak assignments a, SP b, Pj c, PCr, d, e, f, y-, a-, and phosphates of ATP, respectively. From Edwards et al. (1982).

See other pages where Muscle phosphofructokinase deficiency is mentioned: [Pg.18]    [Pg.136]    [Pg.51]    [Pg.696]    [Pg.696]    [Pg.1145]    [Pg.49]    [Pg.891]    [Pg.774]    [Pg.632]    [Pg.669]    [Pg.377]    [Pg.225]    [Pg.527]   
See also in sourсe #XX -- [ Pg.143 , Pg.152 ]




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