What happens in ornithine transcarbamylase deficiency?

Description. Ornithine transcarbamylase deficiency is an inherited disorder that causes ammonia to accumulate in the blood. Ammonia, which is formed when proteins are broken down in the body, is toxic if the levels become too high. The nervous system is especially sensitive to the effects of excess ammonia.

What type of disorder is ornithine transcarbamylase deficiency?

Ornithine Transcarbamylase (OTC) Deficiency. OTC is an inherited disorder that belongs to a class of genetic diseases called urea cycle disorders. In OTC, the urea cycle is unable to proceed normally which then causes ammonia to accumulate in the blood. When ammonia levels become too high it is toxic to your body.

What is the function of ornithine transcarbamylase?

The specific role of the ornithine transcarbamylase enzyme is to control the reaction in which two compounds, carbamoyl phosphate and ornithine, form a new compound called citrulline.

What are the symptoms of urea cycle disorder?

Symptoms of Urea Cycle Disorders These symptoms can include headaches, fatigue (feeling tired), confusion, and trouble concentrating. Any level of elevated ammonia, even if it’s not high enough to cause severe symptoms or a hyperammonemic crisis, should be avoided in order to prevent brain damage.

Is OTC deficiency fatal?

Our case, similar to the previously few reported cases of OTC deficiency, presented with a rapidly worsening coma that, unfortunately, can be potentially fatal [9]. Indeed, death is an usual outcome of the disease in its mild forms.

How is hyperammonemia diagnosed?

The most important diagnostic test for the diagnosis of hyperammonemia is measuring plasma ammonia. Various biomarkers are used for the differential diagnosis of hyperammonia. They include plasma and urine amino acid profiles, urine organic acid profiles, and plasma acylcarnitine profiles.

Where is ornithine transcarbamylase located?

mitochondria
Ornithine transcarbamoylase (OTC) or OCT (EC 2.1. 3.3) is an enzyme that catalyzes the reaction of citrulline formation from l-ornithine and carbamoyl phosphate (Figure 23.9). In mammals it is almost exclusively located in the mitochondria of hepatocytes and is part of the urea cycle.

What is ornithine made from?

Ornithine itself is a non-protein amino acid formed mainly from L-glumate in plants, and synthesized from the urea cycle in animals as a result of the reaction catalyzed by enzymes in arginine.

What are signs of high ammonia levels?

Symptoms of high ammonia levels in your blood include:

  • Confusion and disorientation.
  • Excessive sleepiness.
  • Changes in consciousness.
  • Mood swings.
  • Hand tremors.
  • Coma.