6-phosphogluconate dehydrogenase deficiency: Difference between revisions
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'''6-Phosphogluconate dehydrogenase deficiency''' is |
'''6-Phosphogluconate dehydrogenase deficiency''' (6PGD deficiency), or partial deficiency, is an [[X-linked recessive]] [[hereditary disease]] characterized by abnormally low levels of [[Phosphogluconate dehydrogenase|6-Phosphogluconate dehydrogenase]] (6PGD), a metabolic [[enzyme]] involved in the [[Pentose phosphate pathway]]. It is very important in the metabolism of [[red blood cells]] (erythrocytes). 6PDG deficiency effects less than 1% of the population, and studies suggest that there may be race variant involved in many of the reported cases. Although it is similar, 6PDG deficiency is not linked to [[Glucose-6-phosphate dehydrogenase deficiency]], as they are located on different [[chromosomes]], however there have been reported cases where both metabolic diseases have been present in the same subject. |
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Revision as of 15:22, 2 December 2013
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6-Phosphogluconate dehydrogenase deficiency (6PGD deficiency), or partial deficiency, is an X-linked recessive hereditary disease characterized by abnormally low levels of 6-Phosphogluconate dehydrogenase (6PGD), a metabolic enzyme involved in the Pentose phosphate pathway. It is very important in the metabolism of red blood cells (erythrocytes). 6PDG deficiency effects less than 1% of the population, and studies suggest that there may be race variant involved in many of the reported cases. Although it is similar, 6PDG deficiency is not linked to Glucose-6-phosphate dehydrogenase deficiency, as they are located on different chromosomes, however there have been reported cases where both metabolic diseases have been present in the same subject.
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