About Arginase-1 Deficiency

What is Arginase-1 Deficiency?

Arginase-1 deficiency is a rare genetic disorder caused by a mutation in the arginase-1 gene. This gene is responsible for producing the enzyme arginase-1, which is necessary for the body to break down the amino acid arginine. Without this enzyme, arginine builds up in the body, leading to a variety of symptoms including intellectual disability, seizures, and movement disorders. Treatment for arginase-1 deficiency typically involves dietary changes and supplementation with arginine-lowering medications.

What are the symptoms of Arginase-1 Deficiency?

The symptoms of Arginase-1 Deficiency can vary from person to person, but some of the most common symptoms include:

-Developmental delay
-Intellectual disability
-Growth retardation
-Feeding difficulties
-Hepatomegaly (enlarged liver)
-Hyperammonemia (elevated levels of ammonia in the blood)
-Hyperammonemic encephalopathy (brain damage caused by high levels of ammonia in the blood)
-Hypoglycemia (low blood sugar)
-Hypotonia (low muscle tone)
-Hypertonia (high muscle tone)
-Gastrointestinal problems
-Renal tubular acidosis (a disorder of the kidneys)
-Hyperuricemia (high levels of uric acid in the

What are the causes of Arginase-1 Deficiency?

Arginase-1 Deficiency is caused by mutations in the ARG1 gene, which provides instructions for making the enzyme arginase-1. This enzyme is involved in the urea cycle, which is a series of chemical reactions that help the body break down proteins and eliminate toxic substances. Mutations in the ARG1 gene lead to a shortage of arginase-1, which can cause a buildup of ammonia and other toxic substances in the body.

What are the treatments for Arginase-1 Deficiency?

1. Dietary modifications: A low-protein diet may be recommended to reduce the amount of arginine in the body.

2. Supplementation: Supplementation with citrulline, an amino acid that is converted to arginine in the body, may be recommended to increase arginine levels.

3. Medications: Medications such as ornithine transcarbamylase (OTC) and N-acetylcysteine (NAC) may be prescribed to help the body metabolize arginine more efficiently.

4. Gene therapy: Gene therapy is a potential treatment option for arginase-1 deficiency. This involves introducing a healthy copy of the arginase-1 gene into the body to replace the defective gene.

5. Liver transplant: In some cases, a liver transplant may

What are the risk factors for Arginase-1 Deficiency?

1. Genetic inheritance: Arginase-1 Deficiency is an inherited disorder caused by mutations in the ARG1 gene.

2. Ethnicity: Arginase-1 Deficiency is more common in individuals of Ashkenazi Jewish descent.

3. Age: Arginase-1 Deficiency is more common in infants and young children.

4. Exposure to certain medications: Certain medications, such as anticonvulsants, can increase the risk of developing Arginase-1 Deficiency.

Is there a cure/medications for Arginase-1 Deficiency?

At this time, there is no cure for Arginase-1 Deficiency. However, there are medications that can help manage the symptoms. These include medications to reduce inflammation, such as corticosteroids, and medications to reduce the amount of ammonia in the blood, such as L-ornithine-L-aspartate. Additionally, dietary modifications may be recommended to reduce the amount of protein in the diet.