Why is there no hyperammonemia in arginase deficiency?
Why is there no hyperammonemia in arginase deficiency?
The severe hyperammonemia observed in other urea cycle defects is rarely observed in patients with arginase deficiency for at least 2 identifiable reasons. The first reason is that formed arginine, which contains 2 waste nitrogen molecules, can be released from the hepatocyte and excreted in urine.
How do you treat Argininemia?
There is no cure for 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.
What causes Argininemia?
Argininemia, is an autosomal recessive urea cycle disorder where a deficiency of the enzyme arginase causes a buildup of arginine and ammonia in the blood….
| Argininemia | |
|---|---|
| Arginine | |
| Specialty | Neurology, medical genetics, endocrinology |
| Symptoms | Lethargy, Dehydration |
| Causes | Mutations in the ARG1 gene |
How do I lower ammonia levels?
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)
How is arginase deficiency inherited?
Arginase-1 deficiency is inherited as an autosomal recessive genetic disorder and is caused by mutations in the ARG1 gene. Mutations in the ARG1 gene result in production of an abnormal arginase enzyme.
When should you take L-arginine?
Taking L-arginine L-arginine should be taken at least 3 times a day: in the morning and one each before and after working out. The recommended dose is between 2 to 6 grams. This can be taken before working out to increase blood flow, thus increasing your energy.
Can a person with arginase deficiency have hyperammonemia?
Occasionally, people with arginase deficiency have episodes of severe buildup of ammonia in the blood (hyperammonemia). Although rare, these episodes are more likely to occur following a high- protein meal or during periods of stress caused by illness or fasting.
How is arginase deficiency treated in the medical field?
The main goals in the treatment of arginase deficiency are to lower arginine levels and to prevent buildup of ammonia in the blood (hyperammonemia). People with arginase deficiency must be closely supervised by a medical team with experience treating metabolic disorders. They may need frequent blood tests to check arginine levels.
What should you avoid if you have arginine deficiency?
Valproic acid should be avoided, as it can increase blood ammonia levels. Affected individuals should receive periodic blood tests to determine the levels of ammonia and arginine in the blood and to be sure that liver function is not impaired.
How does arginase-1 deficiency affect the urea cycle?
Arginase-1 deficiency is inherited as an autosomal recessive genetic disorder. The urea cycle disorders are a group of rare disorders affecting the urea cycle, a series of biochemical processes in which nitrogen is converted into urea and removed from the body through the urine.