The mature, anueleate human red cell is incapable of synthesizing en­ zymes and is dependent upon anaerobic metabolism to m eet its energy requirements. Thus, inherited red cell enzyme deficiencies of the glycolytic pathway often result in chronic nonspherocytic hemolytic anemia (CNSHA). The hexosemonophosphate (HMP) shunt is normally relatively inactive and enzyme deficiences, such as G-6-PD d...

Dietary methionine (met) is reported to enhance antibody production and boost cell-mediated immunity in chickens. Methionine deficiency has been shown to affect the development of the lymphoid organs and the generation of antibodies in chickens. This study is designed to investigate the effects of met deficiency on IgA+ B cells and immunoglobulins (sIgA, IgA, IgG and IgM) for a 6 wee...

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 fre...

Background: The aim of this study was to perform a systematic review and meta-analysis on available data about glucose-6-phosphate dehydrogenase enzyme deficiency (G6PDD) status in Iranian neonates screened for the disease. Methods: A literature search was conducted in electronic databases of Embase, PubMed, Web of Sciences, Scopus and Google Scholar for articles published from inception to 1 ...

Pompe disease is an autosomal recessive condition with an incidence of around 1 in 40,000 in the general population, and is caused by a deficiency of the enzyme acid alphaglucosidase. Clinical features occur due to the deposition and accumulation of glycogen within lysosomes, most notably those within the cardiac and skeletal muscles. The extent of this enzyme deficiency affects both the age of...

Background 3b-hydroxysteroid dehydrogenase type 2 (3bHSD2) is the key enzyme converting Δ5-steroids to Δ4-ketosteroids in adrenal and gonadal steroidogenesis. Severe lossof-function mutations of HSD3B2 gene encoding for this enzyme cause the rare form of congenital adrenal hyperplasia, “3bHSD deficiency”. Affected individuals have salt losing, adrenal insufficiency and ambiguous genitalia in bo...

Erythrocyte glucose-6-phosphate dehydrogenase (G-6-P.D.) deficiency is associated with an increased susceptibility to hemolysis following ingestion of such agents as primaquine, naphthaline, sulfonamides, other drugs and the fava bean (1, 2). The incidence of this trait varies considerably among different population groups. Thus, it is relatively common among Negroes (3-7) and among Caucasians ...

The name of lysosomal storage diseases stems from the fact that in this category of disorders specific undegraded materials are stored in the lysosomes. This is usually caused by a lysosomal enzyme deficiency and leads to a cascade of pathological outcomes. Apart from deficiency of lysosomal enzymes, lysosomal storage diseases also include deficiencies in proteins necessary for enzyme functioni...

Very long chain acyl-CoA dehydrogenase is a newly characterised enzyme in mitochondrial fatty acid oxidation. A girl who presented on the second day of life with a sudden and severe illness due to deficiency of this enzyme is reported. There is evidence that some children (and perhaps all) originally diagnosed with a deficiency of long-chain acyl-CoA dehydrogenase, in fact, have a defect involv...

The ribonucleotide reductase activities in vitamin B12-sufficient and -deficient cells of Euglena gracilis were measured. We found that the cells progress into vitamin B12 deficiency the enzyme activity increases, reaching a maximum value of 20-fold in advanced deficiency. No signigicant differences in the activities were found to result as a consequence of different growth conditions. We propo...