Argininemia is an inherited metabolic disorder caused by a deficiency of the enzyme arginase. This enzyme is responsible for breaking down the amino acid arginine, which is essential for normal growth and development. People with argininemia are unable to break down arginine, leading to a buildup of the amino acid in the body. Symptoms of argininemia can include poor growth, intellectual disability, seizures, and liver and kidney problems. Treatment typically involves a low-arginine diet and supplementation with other amino acids.

The symptoms of Argininemia can vary from person to person, but may include:

-Poor feeding
-Vomiting
-Lethargy
-Developmental delay
-Seizures
-Hyperammonemia
-Hyperammonemic encephalopathy
-Hyperactivity
-Hyperreflexia
-Hypotonia
-Growth retardation
-Intellectual disability
-Behavioral problems
-Movement disorders
-Gait abnormalities
-Muscle weakness
-Liver dysfunction
-Aminoaciduria

Argininemia is caused by a genetic mutation in the gene that codes for the enzyme arginase, which is responsible for breaking down the amino acid arginine. This mutation results in a deficiency of arginase, leading to an accumulation of arginine in the body. Other causes of argininemia include a deficiency of the enzyme ornithine transcarbamylase, which is responsible for converting arginine to citrulline.

The primary treatment for Argininemia is a low-protein diet, which helps to reduce the amount of arginine in the body. Other treatments may include supplementation with citrulline, which helps to increase the amount of arginine in the body, and supplementation with other essential amino acids. In some cases, medications such as sodium benzoate may be prescribed to help reduce the amount of ammonia in the body. In severe cases, a liver transplant may be necessary.

1. Family history of the disorder
2. Consuming a diet high in protein
3. Certain genetic mutations
4. Certain medications, such as valproic acid
5. Exposure to certain environmental toxins, such as lead or mercury

Yes, there is a cure for Argininemia. Treatment typically involves a low-protein diet and the use of medications such as sodium benzoate, citrulline, and arginine supplements. Additionally, some patients may require a liver transplant to improve their condition.