Aldosterone synthase deficiency; Corticosterone methyloxidase type I deficiency; Corticosterone methyloxidase type II deficiency
Description
Aldosterone synthase deficiency is an autosomal recessive disorder caused by a defect in the final biochemical step of aldosterone biosynthesis, the 18-hydroxylation of 18-hydroxycorticosterone to aldosterone. This disease is characterized by life-threatening salt-loss, failure to thrive, hyponatraemia and hyperkalaemia in early infancy. In type I deficiency, aldosterone is undetectable, whereas in type II aldosterone can be low or normal.
Category
Endocrine and metabolic disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
05 Endocrine, nutritional or metabolic diseases
Endocrine diseases
Disorders of the adrenal glands or adrenal hormone system
5A73 Hypoaldosteronism
H00258 Aldosterone synthase deficiency
Pathway-based classification of diseases [BR:br08402]
Lipid/glycolipid metabolism
nt06019 Steroid hormone biosynthesis
H00258 Aldosterone synthase deficiency
