" /> Hexose-6-phosphate Dehydrogenase Deficiency - CISMeF





Preferred Label : Hexose-6-phosphate Dehydrogenase Deficiency;

NCIt related terms : Cortisone Reductase Deficiency Type 1;

Alternative definition : NICHD: Decreased activity of hexose-6-phosphatase due to autosomal recessive mutation(s) in the H6PD gene. This enzyme is necessary to generate NADPH, a cofactor in the 11-beta-hydroxysteroid dehydrogenase pathway required for conversion of cortisone to cortisol. 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.;

NCI Metathesaurus CUI : CL514654;

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28/07/2025


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