Hexose-6-phosphate dehydrogenase deficiency: Difference between revisions

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[[Category:NADPH-dependent enzymes]]
[[Category:NADPH-dependent enzymes]]
[[Category:NADH-dependent enzymes]]
[[Category:NADH-dependent enzymes]]
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Latest revision as of 17:28, 18 March 2025

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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