aldosterone deficiency 1; corticosterone methyloxidase type 1 deficiency

Etiology

• developmental disorder of aldosterone deficiency.

Genetics

• autosomal recessive
• mutation in CYP11B2 gene

Clinical manifestations

• infants with
  • dehydration
  • occasional vomiting
  • poor feeding
  • failure to gain weight
  • intermittent fever

Laboratory

• plasma aldosterone is undetectable
• plasma 18-hydroxycorticosterone* is low or normal
• serum sodium (hypernatremia)
• serum potassium (hypokalemia)

* immediate precursor of aldosterone

More general terms

• developmental disorder of aldosterone deficiency

Additional terms

• aldosterone (Electrocortin, Aldocortin)
• hypoaldosteronism; mineralocorticoid deficiency

Database

• OMIM: https://mirror.omim.org/entry/203400