Corticosterone Methyl Oxidase Deficiency: Symptoms & Treatment

Corticosterone methyl oxidase deficiency is rare genetic disease in which too much of sodium is lost through urine and excess retention of potassium. This imbalance of the vital electrolytes causes low level of sodium in blood (hyponatremia) and high rise of potassium (hyperkalemia). The effects of this disorder are seen during the first few weeks after birth. Infants may also have high acid level in the blood leading to metabolic acidosis.

Corticosterone methyl oxidase deficiency is also known as Aldosterone synthase deficiency disorder. It occurs due to mutation in CYP11B2 gene. This gene is involved in producing aldosterone synthase enzyme which further helps to secrete hormone aldosterone from the adrenal glands.

The main function of aldosterone is to maintain adequate salt and fluid balance. But since the secretion of aldosterone is impaired, it leads to electrolyte imbalance.

The infant with this disorder thus experiences weakness of muscles, nausea and vomiting, dehydration, failure to grow, seizures and coma. Cases of this disorder are mostly seen Iranian Jewish people. Treatment in corticosterone methyl oxidase deficiency consists of eating enough salt in diet, re-hydration and corticosteroid therapy. Prognosis of the disorder is guarded and depends on severity of symptoms.

What Causes Corticosterone Methyl Oxidase Deficiency?


Corticosterone methyl oxidase deficiency is caused due to mutation in the gene CYP11B2.

This gene helps to produce an enzyme called aldosterone synthase by adrenal glands located on the top of kidneys. Aldosterone helps to regulate blood pressure by maintaining salts and fluids in the body.

Thus when there is deficiency of corticosterone methyl oxidase the resulting effect is less production of aldosterone hormone giving rise to impairment in kidney function to absorb sodium salt and flush out potassium in urine. As a result there is excess of potassium and less of sodium salt in the blood giving rise to various symptoms of Corticosterone methyl oxidase deficiency.

The disorder is hereditary and its manifestations develop soon after childbirth within first few days of life till 5 months. The disorder is mainly observed in Iranian Jews and Amish population of Philadelphia.

Corticosterone Methyl Oxidase Deficiency Symptoms

The signs and symptoms of corticosterone methyl oxidase deficiency develop in newborn and infants within first five months of life. Symptoms become less severe as the child grows adult. Most of the symptoms are those of metabolic acidosis, low sodium and high potassium level in the body. They all result from deficiency of aldosterone hormone.

Manifestations in newborn are as follows;

  • Vomiting and nausea
  • Dehydration due to vomiting
  • Low blood pressure
  • Muscle weakness
  • Seizures
  • Coma

As the infant grows into childhood he may present with following symptoms;

  • Low blood pressure
  • Failure to grow
  • Late development of milestones such as walking, talking learning etc.
  • The stature of child remains short.
  • Weakness in muscles which causes movement disability.
  • Craving for salt.

Treatment For Corticosterone Methyl Oxidase Deficiency

Corticosterone methyl oxidase deficiency is a genetic disease. Symptoms of this disease appear soon after birth. They may be mild or severe. Depending on the severity of symptoms treatment is instituted. Sometimes doctors do not wait for genetic test reports for confirmation. They commence the treatment observing the symptoms and state of health of the patient.

  • Maintaining appropriate level of fluid in the body.
  • Maintaining health balance of various salts such as sodium and potassium.
  • Administration of corticosteroids as a replacement therapy for aldosterone deficiency.
  • Older children are advised to eat more salt as large amount of it is passed away through urine. Kidney fails to reabsorb and retain sodium salt.

Prognosis of corticosterone methyl oxidase deficiency depends on the symptom severity. Infants having mild symptoms have good prognosis of their survival. They may reach adulthood with normal life expectancy. However, regular check up and monitoring is necessary. Some newborn having severe symptoms may not live long.

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