Morgulis and Spencer (1) reported that the urinary excretion of creatine was increased in vitamin E-deficient rabbits and that there was no decrease in the urinary creatinine excretion. Goettsch and Brown (2) found that the muscle content of creatine was decreased in vitamin E-deficient rabbits which indicated the creatinuria was at least in part the result of a nonretention or nonutilization o...

We describe a new creatine metabolism disorder in 2 young sisters who suffered from mental retardation and severe language delay. Blood examination, investigation of the most common neurometabolic disorders, and brain magnetic resonance imaging were normal. Diagnosis was established only by means of in vivo proton magnetic resonance spectroscopy, which disclosed generalized depletion of creatin...

Syndróm GLUT1 deficiencie je zriedkavé neurometabolické ochorenie mozgu vznikajúce pri poruche transportu glukózy cez hematoencefalickú bariéru. Keďže mozog takmer úplne závislý od dodávky ako hlavného zdroja energie a hlavným transportérom bariéru, klasický typ ochorenia sa prejavuje závažnými dôsledkami neuroglykopénie: včasnou neurovývojovou encefalopatiou s epilepti...

BACKGROUND We describe a 56-year-old woman admitted to the hospital with a diagnosis of acute myocardial infarction without an increase of serum creatine kinase (CK) activity during her clinical course. She died on the 11th hospital day, and the diagnosis was confirmed by autopsy. The patient had had no previous muscular symptoms. METHODS Expression of the CK-muscle (CK-M) protein in cardiac ...

Creatinuria is one of the results of vitamin E deficiency. This was first demonstrated by Morgulis and Spencer (1) on rabbits. The effectiveness of a-tocopherol in reducing the excretion of creatine to normal levels was shown by Mackenzie and McCollum (2) and has been verified by many others. The creatine lost from muscle tissue during dystrophy (3) undoubtedly accounts for the creatinuria, and...

A 7 year old boy with DeSanctis-Cacchione syndrome - xeroderma pigmentosum, microcephaly, mental deficiency, dwarfism and gonadal hypoplasia - will be presented.

Background: Early diagnosis and proper treatment of patient with acute coronary syndrome (ACS) and ischemic heart disease are important in determining prognosis, preventing adverse effects, and may even save lives. In this study, the level of pregnancy-associated plasma protein-A (PAPP-A) in ACS patients was compared with the control group, in addition to cardiac Troponin (cTn) and creatine kin...

Complete blood counts and blood chemistry in four Siberian husky puppies diagnosed with swimming puppy syndrome were compared with four healthy Siberian husky puppies. Only serum creatine kinase in affected puppies was significantly (P < 0.01) higher than in normal puppies. Although serum creatine kinase level cannot be used for diagnosis of this disease, it could serve as a tool for prognosis ...

Hypoxanthine-guanine phosphoribosyl transferase (HPRT) deficiency is an X-linked defect of purine metabolism. Clinical manifestations are usually related to the degree of enzyme deficiency; complete HPRT deficiency (Lesh-Nyhan Syndrome) presenting with severe neurological or renal symptoms, or partial HPRT deficiency (Kelley-Seegmiller syndrome) manifesting as a gout-urolithiasis syndrome. We r...