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6-phosphogluconate dehydrogenase deficiency
6-Phosphogluconate dehydrogenase deficiency (6PGD deficiency), or partial deficiency, is an autosomal 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 affects 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, a few people have had both of these metabolic diseases.
==Genetics==
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-Phosphogluconate dehydrogenase enzyme. Transfer of the disease can be passed from a parent, even when the parent is asymptomatic.
抄文引用元・出典: フリー百科事典『 ウィキペディア（Wikipedia）』
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