Tarui s disease

Carbohydrate abnormalities, such as renal glycosuria (a transport defect), pentosuria (enzyme deficiency, xylitol dehydrogenase I. lactase deficiencies, fructose intolerance, galactosemia, galacloki-nase deficiency, oxalosis, and several glycogenoses (von Gierke s, Forbes . Andersen s, Hers s. and Tarui s diseases). 

VII Muscle phosphofructokinase Tarui s disease Exercise-induced muscle cramps and weakness, sometimes with rhabdomyolysis haemolytic anaemia... 

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. 

Nakamura, T, Tokunaga, K, Shimomura, I, Nishida, M, Yoshida, S, Kotani, K, Islam, AH, Keno, Y, Kobatake, T, Nagai, Y, Fujioka, S, Tarui, S and Matsuzawa, Y (1994) Contribution of visceral fat accumulation to the development of coronary artery disease in non-obese men. Atherosclerosis, 107, 239-246. 

V8. Vasconcelos, O., Sivakumar, K., Dalakas, M. C., Quezado, M., Nagle, J., Leon-Monzon, M., Dubnick, M., Gajdusek, C., and Goldfarb, L. G., Nonsense mutation in the phosphofructokinase muscle subunit gene associated with retention of intron 10 in one of the isolated transcripts in Ashkenzai Jewish patients with Tarui disease. Proc. Natl Acad. Sci. U.S.A. 92, 10322-10326 (1995). 

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