Hexose-6-phosphate dehydrogenase deficiency

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Decreased activity of hexose-6-phosphatase due to autosomal recessive mutation(s) in the h6pd gene.

Biochemistry[edit]

This enzyme is necessary to generate nadph, a cofactor in the 11-beta-hydroxysteroid dehydrogenase pathway required for conversion of cortisone to cortisol.

Clinical features[edit]

The condition is characterized by hyperandrogenism as a result of increased adrenocorticotropic hormone stimulation of the adrenal gland due to failure of cortisol-mediated down-regulation, and is clinically indistinguishable from 11-beta hsd type 1 deficiency.

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Oxidoreductases: alcohol oxidoreductases (EC 1.1)
1.1.1: NAD/NADP acceptor
* 3-hydroxyacyl-CoA dehydrogenase
1.1.2: cytochrome acceptor
1.1.3: oxygen acceptor
1.1.4: disulfide as acceptor
1.1.5: quinone/similar acceptor


Enzymes
Activity
Regulation
Classification
Kinetics
Types




This EC 1.1.1 enzyme-related article is a stub. You can help WikiMD by expanding the page.

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