Hexose-6-phosphate dehydrogenase deficiency: Difference between revisions
From WikiMD's Wellness Encyclopedia
No edit summary Tag: visualeditor-wikitext |
CSV import Tag: Reverted |
||
| Line 15: | Line 15: | ||
[[Category:NADPH-dependent enzymes]] | [[Category:NADPH-dependent enzymes]] | ||
[[Category:NADH-dependent enzymes]] | [[Category:NADH-dependent enzymes]] | ||
__NOINDEX__ | |||
Revision as of 06:24, 4 February 2025
Decreased activity of hexose-6-phosphatase due to autosomal recessive mutation(s) in the h6pd gene.
Biochemistry
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
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.
| This article is a stub. You can help WikiMD by registering to expand it. |
| Enzymes | ||||||||||
|---|---|---|---|---|---|---|---|---|---|---|
|