How does OTC deficiency cause hyperammonemia?
The lack of the OTC enzyme results in excessive accumulation of nitrogen, in the form of ammonia (hyperammonemia), in the blood. Excess ammonia, which is a neurotoxin, travels to the central nervous system through the blood, resulting in the symptoms and physical findings associated with OTC deficiency.
What is the treatment for hyperammonemia?
Medications used in the treatment of hyperammonemia include the following: Urea cycle disorder treatment agents (eg, sodium phenylbutyrate, carglumic acid, sodium phenylacetate, and sodium benzoate) Antiemetic agents (eg, ondansetron, granisetron, palonosetron, dolasetron)
What enzyme deficiency causes hyperammonemia?
Congenital hyperammonemia is usually due to genetic defects in one of the enzymes of the urea cycle, such as ornithine transcarbamylase deficiency, which leads to lower production of urea from ammonia.
What is OTD disorder?
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.
Is OTC dominant or recessive?
All UCDs except OTC deficiency are inherited in an autosomal recessive pattern. A patient’s risk of having an affected child with the disorder will depend on their partner’s carrier status. Thus, preconception genetic counseling is recommended. OTC deficiency is unique among the UCDs because it is an X-linked disorder.
How do you remove ammonia from blood?
There are several ways to remove excess ammonia from the blood including:
- Dialysis (artificial filtering of the blood), using devices such as artificial livers or dialysis in a hospital setting.
- Kidney or liver transplant (in very severe cases)
What kind of doctor treats high ammonia levels?
Gastroenterologists or GI: Physicians who specialize in the treatment of people with disorders of the digestive organs, including the liver.
Can hyperammonemia cause seizures?
Mortality in ammonia-handling disorders is primarily due to acute episodes of elevated blood ammonia (hyperammonemia), characterized by stupor, seizures and coma, which are the main focus of our study1.