Corticosterone methyloxidase deficiency

Beskrivning

Corticosterone methyloxidase deficiency, also known as aldosterone synthase deficiency, is a disorder characterised by excessive amounts of sodium released in the urine (salt wasting), along with insufficient release of potassium in the urine, usually beginning in the first few weeks of life. This imbalance leads to low levels of sodium and high levels of potassium in the blood (hyponatremia and hyperkalemia, respectively). Individuals with corticosterone methyloxidase deficiency can also have high levels of acid in the blood (metabolic acidosis).

The hyponatremia, hyperkalemia, and metabolic acidosis associated with corticosterone methyloxidase deficiency can cause nausea, vomiting, dehydration, low blood pressure, extreme tiredness (fatigue), and muscle weakness. Affected infants often experience failure to thrive, which means they do not gain weight and grow at the expected rate. Severe cases of corticosterone methyloxidase deficiency can result in seizures and coma and can be life-threatening. However, affected individuals who survive infancy generally have a normal life expectancy, and the signs and symptoms of the disorder typically become milder or disappear by adulthood.

Inheritance patterns

The source lists the following possible inheritance patterns: Autosomal recessive. More than one pattern can apply in different cases.

Related genes

• CYP11B2

Other names

18-hydroxylase deficiency

18-oxidase deficiency

Aldosterone deficiency

Aldosterone deficiency due to deficiency of steroid 18-hydroxylase

Aldosterone deficiency due to deficiency of steroid 18-oxidase

Aldosterone synthase deficiency

CMO deficiency

Congenital hypoaldosteronism

Corticosterone 18-monooxygenase deficiency

Corticosterone methyl oxidase deficiency

Familial hyperreninemic hypoaldosteronism

Steroid 18-hydroxylase deficiency

Steroid 18-oxidase deficiency

Visser-Cost syndrome