Corticosterone Methyloxidase Deficiency

Corticosterone Methyloxidase Deficiency [CYP11B2]: CYP11B2 mutations lead to insufficient production of aldosterone leading to salt imbalances in the body. Affected individuals have failure to thrive (as infants), nausea, vomiting, dehydration, low blood pressure, fatigue, and muscle weakness. Additional features can include life-threatening seizures and coma. Individuals who survive infancy usually have diminished symptoms and can have a normal life expectancy.

Sephardic-Mizrahi Jewish Carrier Frequency: 1 in 30