SNP Shot: Genomic Insights

Corticosterone methyloxidase deficiency (CMO deficiency), also called aldosterone synthase deficiency, is a condition where the body loses too much sodium in the urine (salt wasting) and doesn't release enough potassium into the urine. This usually starts in the first few weeks of life. This causes low sodium levels in the blood (hyponatremia) and high potassium levels in the blood (hyperkalemia), along with a buildup of acid in the blood (metabolic acidosis).

The symptoms of CMO deficiency, including hyponatremia, hyperkalemia, and metabolic acidosis, can include nausea, vomiting, dehydration, low blood pressure, extreme fatigue, and muscle weakness. Infants with this condition often struggle to gain weight and grow at a normal pace (failure to thrive). In severe cases, CMO deficiency can lead to seizures, coma, and even death. However, individuals who survive infancy typically have a normal lifespan, and the symptoms usually lessen or disappear as they reach adulthood.

Inheritance:

CMO deficiency follows an autosomal recessive inheritance pattern. This means that a person must inherit two copies of the mutated gene (one from each parent) to develop the condition. Parents who each carry one copy of the mutated gene usually do not have any symptoms of the condition.