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6PGD deficiency is a recessive hereditary disorder located on the P arm of chromosome 1. It is an autosomal disease, not associated with the sex chromosomes and can affect both sexes. The lack of synthesis of a specific protein on chromosome 1 has reduced a subject suffering from 6PGD deficiency from producing adequate amounts of the 6 ...
[2] [3] Prokaryotic and eukaryotic 6PGD are proteins of about 470 amino acids whose sequences are highly conserved. [4] The protein is a homodimer in which the monomers act independently: [ 3 ] each contains a large, mainly alpha-helical domain and a smaller beta-alpha-beta domain, containing a mixed parallel and anti-parallel 6-stranded beta ...
Most individuals with G6PD deficiency are asymptomatic.When it induces hemolysis, it is usually is short-lived. [5]Most people who develop symptoms are male, due to the X-linked pattern of inheritance, but female carriers can be affected due to unfavorable lyonization or skewed X-inactivation, where random inactivation of an X-chromosome in certain cells creates a population of G6PD-deficient ...
More than 40 severe class I mutations involve mutations near the structural site, thus affecting the long term stability of these enzymes in the body, ultimately resulting in G6PD deficiency. [13] For example, two severe class I mutations, G488S and G488V, drastically increase the dissociation constant between NADP + and the structural site by ...
NADPH deficiency can cause a dysfunction in glutathione peroxidase which is an enzyme that converts hydrogen peroxide (a reactive oxygen species) into water. G6PD ( glucose-6-phosphate dehydrogenase ) deficiency exacerbated by administration of oxidant drugs (e.g., primaquine , dapsone , quinidine ) can also result in Heinz bodies.
This enzyme is responsible for the interconversion of mannose-6-phosphate and mannose-1-phosphate, and its deficiency leads to a shortage in GDP-mannose and dolichol (Dol)-mannose (Man), two donors required for the synthesis of the lipid-linked oligosaccharide precursor of N-linked glycosylation.
Peroxisomal disorders represent a class of medical conditions caused by defects in peroxisome functions. [1] This may be due to defects in single enzymes [2] important for peroxisome function or in peroxins, proteins encoded by PEX genes that are critical for normal peroxisome assembly and biogenesis.
Ideal sources for Wikipedia's health content are defined in the guideline Wikipedia:Identifying reliable sources (medicine) and are typically review articles. Here are links to possibly useful sources of information about Glucose-6-phosphate dehydrogenase deficiency. PubMed provides review articles from the past five years (limit to free review ...