cortisone reductase deficiency 1
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.
MONDO:0000193
cortisone reductase deficiency
is_a
CORTRD1
exact
H6PD cortisone reductase deficiency
exact
apparent cortisone reductase deficiency
exact
cortisone reductase deficiency 1
exact
cortisone reductase deficiency caused by mutation in H6PD
exact
cortisone reductase deficiency type 1
exact
hexose-6-phosphate dehydrogenase deficiency
exact
SPCC794.01c SPAC3C7.13c