Ornithine transcarbamylase (OTC) deficiency

Definition

Ornithine transcarbamylase (OTC) deficiency is a genetic disorder characterized by a lack of the enzyme OTC, which plays a crucial role in the urea cycle. This deficiency leads to an accumulation of ammonia in the blood, causing hyperammonemia.

5 Must Know Facts For Your Next Test

1. OTC deficiency is an X-linked recessive disorder typically more severe in males.
2. Symptoms of OTC deficiency can range from lethargy and vomiting to severe neurological deficits due to hyperammonemia.
3. Gene therapy for OTC deficiency involves delivering functional copies of the OTC gene to liver cells using viral vectors.
4. Diagnosis often includes measuring orotic acid levels in urine and genetic testing for mutations in the OTC gene.
5. Management may involve dietary restrictions, medications to remove excess ammonia, and liver transplantation.

Related terms

Urea Cycle: A series of biochemical reactions that convert ammonia into urea for excretion.

Hyperammonemia: An elevated level of ammonia in the blood, often due to enzyme deficiencies affecting the urea cycle.

Gene Therapy:

A treatment method that involves introducing genetic material into cells to compensate for defective genes.