How is Argininemia treated?
How is Argininemia treated?
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.
Is Argininemia dominant or recessive gene?
Argininemia is an autosomal recessive disorder causing hyperammonemia secondary to arginine accumulation.
What causes Argininemia?
| Argininemia | |
|---|---|
| Symptoms | Lethargy, Dehydration |
| Causes | Mutations in the ARG1 gene |
| Diagnostic method | Urinary orotic acid concentration |
| Treatment | Protein intake limited, Sodium benzoate |
Which of the following is the symptom of Argininemia?
Symptoms may include feeding problems, vomiting, poor growth, seizures , and stiff muscles with increased reflexes ( spasticity ). People with arginase deficiency may also have developmental delay , loss of developmental milestones, and intellectual disability .
How many people have Argininemia?
Frequency. Argininemia affects as many as one in every 300,000 babies born in the United States.
How common is Argininemia?
Arginase deficiency is a very rare disorder; it has been estimated to occur once in every 300,000 to 1,000,000 individuals.
What chromosome does Argininemia affect?
Phenotype-Gene Relationships
| Location | Phenotype | Gene/Locus |
|---|---|---|
| 6q23.2 | Argininemia | ARG1 |
What happens in arginase deficiency?
Arginase deficiency is an inherited disorder that causes the amino acid arginine (a building block of proteins) and ammonia to accumulate gradually in the blood. Ammonia, which is formed when proteins are broken down in the body, is toxic if levels become too high.
What is Argininemia?
Argininemia (ARG) is a condition that causes harmful amounts of arginine and ammonia to build up in the body. It is considered an amino acid condition because people affected with ARG are unable to break down an amino acid, a small molecule that makes up proteins, known as arginine.
Is Gaucher disease a metabolic disease?
Gaucher disease is a rare, inherited metabolic disorder in which deficiency of the enzyme glucocerebrosidase results in the accumulation of harmful quantities of certain fats (lipids), specifically the glycolipid glucocerebroside, throughout the body especially within the bone marrow, spleen and liver.
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. Most commonly, birth and early childhood are normal.
What is argininemia and what causes it?
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. Ammonia, which is formed when proteins are broken down in the body, is toxic if levels become too high; the nervous system is especially sensitive to the effects of excess ammonia.
Why is newborn screening for argininemia so important?
Children who are treated early for argininemia (ARG) can have healthy growth and development. This is why newborn screening for ARG is so important. Even with treatment, some children may experience learning disabilities, intellectual disabilities, or tight muscles (spasticity), which are commonly associated with ARG.
What happens if arginase is not working properly?
When arginase is not working correctly, the body cannot break down arginine correctly or get rid of ammonia in the blood. This causes high levels of ammonia and arginine in the blood, which can be dangerous. Everyone has some ammonia and arginine in their blood, but too much can be toxic.
What causes high levels of ammonia and arginine in the blood?
This causes high levels of ammonia and arginine in the blood, which can be dangerous. Everyone has some ammonia and arginine in their blood, but too much can be toxic. ARG is an autosomal recessive genetic condition An illness caused by abnormalities in genes or chromosomes.
