In view of data suggesting that deficiency of gamma glutamyl transferase (GGT) may be the primary abnormality in the small-intestinal mucosa of patients with coeliac disease, this enzyme was measured in mucosal biopsies from coeliac patients at different stages of treatment. Activity was only slightly reduced in only one of nine well-treated patients, suggesting that deficiency of this enzyme h...

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a common genetic enzyme defect present in many people from African, Middle Eastern, Mediterranean and Asian countries. Individuals with the enzyme deficiency may remain asymptomatic, develop an acute haemolytic crises to infections or Fava beans, neonatal jaundice or chronic non-spherocytic haemolytic anaemia. Electrophoretic mobility may b...

Acid maltase (AM) deficiency carriers can be detected by muscle enzyme assay. The assay indicates that, just as in infantile and childhood cases, adult cases of the disease are transmitted by autosomal recessive inheritance. With the maltose hydrolysis assay, in some neuromuscular diseases, muscle AM activity can be as low as in heterozygous AM deficiency. A relatively low muscle AM activity in...

CPT (carnitine palmitoyltransferase) II muscle deficiency is the most common form of muscle fatty acid metabolism disorders. In contrast to carnitine deficiency, it is clinically characterized by attacks of myalgia and rhabdomyolysis without persistent muscle weakness and lipid accumulation in muscle fibers. The biochemical consequences of the disease-causing mutations are still discussed contr...

coagulaon factor xiii gene, protein structure and funcon coagulaon factor xiii (fxiii) is a tetrameric (fxiii- a2b2) pro-transglutaminase enzyme with an essenal role in the final stage of coagulaon cascade by cross linking the fibrin monomers and stabilizing the fibrin clot. congenital fxiii deficiency is a rare bleeding disorder, with an autosomal recessive trait inheritance, and a freque...

background: glucose-6-phosphate dehydrogenase (g6pd) deficiency is one of the most known enzyme defects in iran with various genetic mutations. we aimed to study the predisposing factors of hemolysis in children with g6pd deficiency. methods: this study was done during 2007-2012 in two referral centers of mofid children's hospital and baqiyatallah hospital, tehran, iran. the hospital records of...

The Lesch-Nyhan syndrome has been characterized by an apparently complete deficiency in erythrocytes of an enzyme of purine metabolism, hypoxanthine-guanine phosphoribosyltransferase. Recent studies have suggested that low levels of this enzyme may be present in skin fibroblasts cultured from these patients. In the present study, we have confirmed the presence of hypoxanthine-guanine phosphorib...

The Lesch-Nyhan syndrome has been characterized by an apparently complete deficiency in erythrocytes of an enzyme of purine metabolism, hypoxanthine-guanine phosphoribosyltransferase. Recent studies have suggested that low levels of this enzyme may be present in skin fibroblasts cultured from these patients. In the present study, we have confirmed the presence of hypoxanthine-guanine phosphorib...

Erythrocyte glucose-6-phosphate dehydrogenase (G6PD) deficiency is an X-linked hereditary disorder (Browne, 1957). According to Gross, Hurwitz, and Marks (1958) males who are hemizygous for this disorder have low enzyme levels which vary from 0 to 20% of normal, and haemolysis occurs in association with exposure to certain drugs or illness. On the other hand, heterozygous females have intermedi...