A deficiency of adenine phosphoribosyltransferase (A-PRTase) is described in four members in three generations of one family. A-PRTase is coded by an autosome and the mutants described in this report are heterozygotes for this enzyme defect. The level of enzyme activity in these heterozygotes was inappropriately low, ranging from 21 to 37% of normal rather than the expected 50% of normal. Exami...

Arbuscular mycorrhizal fungi (AMF) symbiosis has been shown to improve the ability obtain nutrients and resist adverse environmental conditions. However, there are few studies on functions of AMF in absorption accumulation boron (B). Moreover, it is still unclear whether root colonization rates limited by B deficiency. In this study, Camellia oleifera seedlings were planted normal boron-deficie...

CPT1A enzyme deficiency is a rare metabolic disorder of mitochondrial fatty acid oxidation, with late manifestations during infancy or childhood, including hypoketotic hypoglycemia and hepatic encephalopathy. Newborn screening in several countries include pre-symptomatic detection deficiency, which helps early diagnosis better management the disorder. We report here case detected pre-symptomati...

BACKGROUND Clinical association studies have yielded varied results regarding the impact of glucose-6-phosphate dehydrogenase (G6PD) deficiency upon susceptibility to malaria. Analyses have been complicated by varied methods used to diagnose G6PD deficiency. METHODOLOGY/PRINCIPAL FINDINGS We compared the association between uncomplicated malaria incidence and G6PD deficiency in a cohort of 60...

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an enzymopathy affecting about 400 millionpeople worldwide. The distribution of G6PD deficiency and the molecular genetics of this enzyme vary widelyamong different ethnic groups. The aim of this study was to find out the frequency of G6PD deficiency andcharacterize the Mediterranean type mutation in deficient individuals ...

Objective(s): Particularly in developing countries, selenium and/or iodine deficiencies are encountered and use of pesticides in agriculture are not well-controlled. Fenvalerate is a pyrethroid insectide used in agriculture and has applications against a wide range of pests. This study was designed to evaluate the effects of fenvalerate on hepatic and cerebral xenobiotic metabolizing enzyme act...

biotin is a water-soluble vitamin and co-factor for activation of carboxylases apoenzymes. biotinidase enzyme is essential for release of biotin from apoenzymes. absence of biotinidase is an autosomal recessive trait with a prevalence of 1 in 60000. clinical manifestations of biotinidase deficiency include dermatitis, alopecia, seizures, hypotonia, developmental delay, hearing loss, visual impa...