glucose 6-phosphate dehydrogenase (g6pd) deficiency is an enzyme deficiency of the red blood cells and the most important disease of hexose monophosphate pathway. the role of hemolysis in the pathophysiology of neonatal jaundice due to g6pd deficiency is in contencious. our aim is to study the role of hemolysis in neonatal jaundice associated with g6pd deficiency. this prospective descriptive s...

Red cell pyruvate kinase (PK) deficiency is the most frequent enzyme abnormality of the glycolytic pathway causing hereditary non-spherocytic haemolytic anaemia. The degree of haemolysis varies widely, ranging from very mild or fully compensated forms, to life-threatening neonatal anaemia and jaundice necessitating exchange transfusions. Erythrocyte PK is synthesized under the control of the PK...

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an X-linked genetic disorder characterized by low levels of the G6PD enzyme. It is present worldwide but with more prevalence in the Middle East and the Mediterranean areas. We report a case of severe hemolysis due to G6PD deficiency manifesting as methemoglobinemia in a 70 year old Omani male never known to have any previous hemolytic epis...

Published by: Tehran University of Medical Sciences (http://ijp.tums.ac.ir) respectively. The overall incidence of G6PD enzyme deficiency was 12.96%. Of the total neonates 660 neonates suspected to have sepsis were referred to neonatal intensive care units, but finally after exclusion of other causes such as metabolic disorders and hypoxic ischemic encephalopathy, 110 patients (68 males and 42 ...

Since this symposium is concerned with enzymes in medicine, I shall consider only the work that has been done in human malnutrition. It would be impossible to deal with the very large literature on enzyme changes in animals under different dietary conditions. I shall also confine myself to work which is related to protein and calorie deficiency because this is the field with which I am familiar...

Lesch-Nyhan disease is caused by a deficiency of the purine salvage enzyme, hypoxanthine phosphoribosyl transferase (HPRT). The link between HPRT deficiency and the neuropsychiatric symptoms is unknown. In rat B103 neuroblastoma cell membranes and mouse Neuro2a neuroblastoma cell membranes, nucleoside 5'-triphosphatase (NTPase) activity is substantially reduced, whereas in fibroblast membranes ...

Glucose-6-phosphate dehydrogenase deficiency is a common hemolytic genetic disorder, particularly in the areas endemic to malaria. The risk of drug induced Glucose-6-phosphate dehydrogenase deficiency related hemolysis depends on a number of factors including the Glucose-6-phosphate dehydrogenase variant. Aims: To know the G6PD deficiency and identify its variants in drug induced hemolysis in m...

Eight hundred and six newborn infants at high risk for glucose-6-phosphate dehydrogenase (G-6-PD) deficiency were screened; 30.2% of the boys and 10.4% of the girls had severe G-6-PD deficiency. Surprisingly, 14% of the enzyme deficient girls had a father from a low risk ethnic group. Girls of high risk mothers should be screened for G-6-PD deficiency regardless of paternal origin.

F OR A MODEST SUM, Sigma Chemical Company will supply a diagnostic kit that will enable one to determine the glutathione reductase activity of the erythrocytes in a patient with hemolytic anemia. This kit or one or another assay procedure for glutathione reductase is used by conscientious physicians in the work-up of patients with chronic hemolysis. Unfortunately, the money and effort are waste...

Methylthioadenosine phosphorylase (MTAP) is an important enzyme in the salvage pathway of adenosine and methionine synthesis. MTAP is ubiquitously present in all normal cells and tissues, but deficient in a variety of malignant tumors. The enzyme deficiency is caused by either MTAP gene deletion or promoter hypermethylation. We investigated MTAP expression, MTAP gene deletion and promoter abnor...