Deficiency of glucose-6-phosphate dehydrogenase (G6PD) is an X-linked hereditary genetic defect that is the most common polymorphism and enzymopathy in humans. To investigate functional properties of two clinical variants, G6PDViangchan and G6PDViangchan+Mahidol, these two mutants were created by overlap-extension PCR, expressed in Escherichia coli and purified to homogeneity. We describe an ov...

Inherited pyrimidine 5'-nucleotidase type I (P5'N-1) deficiency is the third most common erythrocyte enzymopathy that causes hemolysis. Fourteen different mutations have been identified to date. We have investigated the molecular bases of the disease by studying the biochemical properties of the recombinant wild-type human enzyme and 4 variant proteins (D87V, L131P, N179S, and G230R) bearing mi...

glucose-6-phosphate dehydrogenase (g6pd) is a cytosolic enzyme which its main function is to produce nadph in the red blood cells by controlling the step from glucose-6-phosphate to 6-phospho gluconate in the pentose phosphate pathway. g6pd deficiency is the most common x-chromosome linked hereditary enzymopathy in the world, that result in reduced enzyme activity and more than 125 different mu...

Hereditary benign telangiectasia is an uncommon idiopathic skin disorder characterized by generalized telangiectases and angiomatous lesions of the skin. The diagnosis should be suspected in patients with such cutaneous lesions, positive family history, no associated bleeding problems, and no mucosal involvement. We present six cases of hereditary benign telangiectasia in three generations of o...

Background. Blood transfusion is a therapeutic procedure usually undertaken in patients with severe anaemia. In Ghana, severe anaemia is mostly due to malaria caused by severe Plasmodium falciparum infection, road traffic accidents, and haemoglobinopathy-induced acute haemolysis. Method. This cross-sectional study evaluated coinheritance of sickle cell haemoglobin variant and G6PD enzymopathy a...

Heritable mutations, known as inborn errors of metabolism, cause numerous devastating human diseases, typically as a result of a deficiency in essential metabolic products or the accumulation of toxic intermediates. We have isolated a missense mutation in the Drosophila sugarkill (sgk) gene that causes phenotypes analogous to symptoms of triosephosphate isomerase (TPI) deficiency, a human famil...

Reconstruction of genome-scale metabolic networks is now possible using multiple different data types. Constraint-based modeling is an approach to interrogate capabilities of reconstructed networks by constraining possible cellular behavior through the imposition of physicochemical laws. As a result, a steady-state flux space is defined that contains all possible functional states of the networ...

BACKGROUND Glucose-6-Phosphate dehydrogenase (G6PD) is a key enzyme of the pentose monophosphate pathway, and its deficiency is the most common inherited enzymopathy worldwide. G6PD deficiency is common among Iraqis, including those of the Kurdish ethnic group, however no study of significance has ever addressed the molecular basis of this disorder in this population. The aim of this study is t...

coexisting ankylosing spondylitis and hereditary multiple exostoses have rarely been reported (three patients) previously. a 27-year-old man with hereditary multiple exostoses is presented as a fourth report. at the age of 15 years, the patient had multiple exostoses around the knee, ankle and shoulder joints. he was diagnosed with ankylosing spondylitis 3 years ago. the patient’s sister and hi...