Glucose-6-phosphate dehydrogenase deficiency

@article{Cappellini2008Glucose6phosphateDD,
  title={Glucose-6-phosphate dehydrogenase deficiency},
  author={Maria Domenica Cappellini and Gemino Fiorelli},
  journal={The Lancet},
  year={2008},
  volume={371},
  pages={64-74}
}
Glucose -6-Dehydrogenase Deficiency and Malaria
TLDR
The link between G6PD deficiency and malaria is further bolstered by the observation of the global distribution of G6 PD deficiency being parallel with that of malaria, which led to the suggestion that G 6PD deficiency has protective advantage as a defence against malaria.
Glucose‐6‐phosphate Dehydrogenase (G6PD) Deficiency: Genetics
TLDR
The prevalence of G6PD-deficient alleles is likely due to the fact that they confer a selective advantage against malaria infection, and knowledge of the G 6PD variants in a population can be useful in limiting illness caused by G6 PD deficiency.
Living with Glucose-6-Phosphate Dehydrogenase Deficiency
TLDR
Most people with G6PD deficiency have a completely normal life as long as they avoid certain foods and drugs.
GLUCOSE-6-PHOSPHATE DEHYDROGENASE (G6PD) DEFICIENCY
TLDR
The importance and function of G 6PD enzyme, incidence rate of G6PD deficiency in the world and Iran, genetic and variants of this enzyme, clinical manifestation, diagnosis and treatment of the enzyme deficiency are reviewed.
Medications and Glucose-6-Phosphate Dehydrogenase Deficiency
Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common human enzyme defect and one of the most common genetic disorders worldwide, with an estimated 400 million people worldwide
Glucose-6-phosphate dehydrogenase deficiency: correlation between the genotype, biochemistry and phenotype.
  • D. Chan
  • Medicine, Biology
    Annals of the Academy of Medicine, Singapore
  • 2008
TLDR
Although correlation of the genotype and biochemistry with the clinical phenotype of G6PD deficient individuals remains somewhat variable, there is better correlation among individuals presenting with chronic non-spherocytic haemolytic anaemia, which is related to the NADP structure of the enzyme.
cytogenetic clinical biochemical and pharmacological aspects of glucose 6 phosphate dehydrogenase an updated review
TLDR
The diagnosis of heterozygous deficient women is especially complicated because these women have a normal and a G6PD-deficient population of erythrocytes as a result of lyonization.
Correcting glucose-6-phosphate dehydrogenase deficiency with a small-molecule activator
TLDR
It is suggested that a pharmacological agent, of which AG1 may be a lead, will likely alleviate the challenges associated with G6PD deficiency and show that it reduces oxidative stress in zebrafish and hemolysis in isolated human erythrocytes.
Glucose-6-Phosphate Dehydrogenase Deficiency and Neonatal Hyperbilirubinemia: Insights on Pathophysiology, Diagnosis, and Gene Variants in Disease Heterogeneity
TLDR
Several known variants of G6PD are highlighted based on the location of the mutation and amino acid replacement to provide insights on why some variants may cause a higher degree of phenotypic severity compared to others and how some variants increase in severity when co-inherited with other blood- or bilirubin-related genetic disorders.
Prevalence of glucose-6-phosphate dehydrogenase (G6PD) deficiency (A-376/202) in homozygous sickle cell patients in Senegal and its clinical impact
TLDR
This study is of therapeutic interest since the recognition of G6PD-deficient sickle cell disease would make it possible to take adequate preventive measures with respect to the taking of oxidizing drugs.
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References

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Glucose-6-phosphate dehydrogenase defi ciency
TLDR
The most frequent clinical manifestations of G6PD defi ciency are neonatal jaundice, and acute haemolytic anaemia, which is usually triggered by an exogenous agent.
Glucose-6-phosphate dehydrogenase deficiency.
TLDR
The three-dimensional structure of G6PD shows a classical dinucleotide binding domain and a novel beta + alpha domain involved in dimerization, which indicates that single amino acid substitutions are a major cause of deficiency.
Glucose-6-phosphate dehydrogenase deficiency and malaria
TLDR
Results from large case control studies conducted in East and West Africa provide strong evidence that the most common African G6PD deficiency variant, G6 PD A–, is associated with a significant reduction in the risk of severe malaria for both G 6PD female heterozygotes and male hemizygotes.
Diagnosis and management of G6PD deficiency.
  • J. Frank
  • Medicine, Biology
    American family physician
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TLDR
Because acute hemolysis is caused by exposure to an oxidative stressor in the form of an infection, oxidative drug, or fava beans, treatment is geared toward avoidance of these and other stressors.
Chronic non-spherocytic haemolytic disorders associated with glucose-6-phosphate dehydrogenase variants.
TLDR
By revisiting the 61 class I G6PD molecular variants described so far, it is observed that a low inhibition constant for NADPH, a higher Km for substrates and a reduced thermostability are common.
Molecular heterogeneity of glucose-6-phosphate dehydrogenase A-.
TLDR
The nucleotide sequence of the chimpanzee (Pan troglodytes) G6PD indicates that the primordial human type of G 6PD was G6 PD B, and the recently acquired ability to identify the point mutations producing the different variants has given new insights into the population genetics ofG6PD variants.
Glucose 6-phosphate dehydrogenase mutations causing enzyme deficiency in a model of the tertiary structure of the human enzyme.
TLDR
A homology model of human G6PD has been built, based on the three-dimensional structure of the enzyme from Leuconostoc mesenteroides, and it has shown that a cluster of mutations in exon 10, resulting in severe clinical symptoms, occurs at or near the dimer interface of the enzymes.
Glucose-6-phosphate dehydrogenase deficiency inhibits in vitro growth of Plasmodium falciparum.
TLDR
The data support the hypothesis that G6PD deficiency may confer a selective advantage in a malarious area; the female heterozygote may be at a particular advantage because resistance to malaria equals that of male hemizygotes, but the risk of fatal hemolysis may be less.
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