Table of Contents
How do you treat Argininemia?
Treatment for argininemia is dietary, through restriction of dietary protein and by taking necessary amino acids. Additionally, medications called nitrogen-scavenging drugs may help maintain lower amounts of ammonia in the body. Seizures can be treated with medication, but valproic acid should be avoided.
How is argininemia inherited?
Inheritance. This condition is inherited in an autosomal recessive pattern , which means both copies of the gene in each cell have mutations.
Is arginase deficiency fatal?
Clinical characteristics: Arginase deficiency in untreated individuals is characterized by episodic hyperammonemia of variable degree that is infrequently severe enough to be life threatening or to cause death.
How is Argininemia inherited?
Is Argininemia dominant or recessive?
Argininemia is an autosomal recessive disorder causing hyperammonemia secondary to arginine accumulation.
Is argininemia dominant or recessive?
How common is Argininemia?
How common is Argininemia? The incidence of argininemia in the population is 1 in 350,000 to 1 in 1,000,000 births.
Where is the OTC gene located?
Gene-Phenotype Relationships
| Location | Phenotype | Phenotype MIM number |
|---|---|---|
| Xp11.4 | Ornithine transcarbamylase deficiency | 311250 |
What are symptoms of OTC disease?
Initial symptoms may include refusal to eat, poor suck, vomiting, progressive lethargy, and irritability. The disorder may rapidly progress to include seizures, diminished muscle tone (hypotonia), an enlarged liver (hepatomegaly) and respiratory abnormalities.
Can OTC deficiency be cured?
Genetic counseling is recommended for individuals with OTC deficiency and their families. In some cases, liver transplantation, either cadaveric or from a living donor, may be an appropriate treatment option. Liver transplantation can cure the hyperammonemia in OTC deficiency.