[Muscular glycogenesis and haemolytic anaemia due to enzyme deficiency in two siblings. Familial form of Tarui's disease due to a deficiency in muscular and erythrocytic phosphofructokinase (author's transl)].
Tarui's diseases affecting a brother and sister was studied. On the basis of these case, a general review is undertaken of this rare muscle glycogenosis, of which only six cases have been reported up to the present. This study underlines the characteristics of the responsible phosphofructokinase deficiency which has the special characteristic of manifesting itself at one and the same time in muscle by a picture of non-traumatic rhabdomyolysis and in the red cells by haemolysis, in most cases sub-clinical. This sign, clinically evident in the first case, was nevertheless a fundamental diagnostic element. In the context of the diagnostic criteria, emphasis is placed upon the value of the measurement of blood lactic acid after effort, the results of which, in conjunction with an increase in muscle enzymes, confirm the presence of a true muscle glygenosis. Enzyme studies indicate the nature of the latter.
D000328:Adult; D000743:Anemia, Hemolytic / Q000235:genetics*; D004912:Erythrocytes / Q000201:enzymology; D005260:Female; D006008:Glycogen Storage Disease / Q000235:genetics*; D006801:Humans; D008297:Male; D009132:Muscles / Q000201:enzymology / Q000648:ultrastructure; D010732:Phosphofructokinase-1 / Q000172:deficiency*
D010732:Phosphofructokinase-1
Glycogénose musculaire et anémie hémolytique par déficit enzymatique chez deux germains. Forme familiale de maladie de Tarui, par déficit en phosphofructokinase musculaire et érythrocytaire.