Argininosuccinic aciduria (ASA) is an inherited metabolic disorder caused by a deficiency of the enzyme argininosuccinate lyase. This enzyme is responsible for breaking down the amino acid arginine, which is essential for normal growth and development. People with ASA are unable to break down arginine, leading to a buildup of argininosuccinic acid in the body. Symptoms of ASA include poor growth, vomiting, seizures, and intellectual disability. Treatment typically involves a low-protein diet and supplementation with arginine.

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

-Poor feeding
-Vomiting
-Lethargy
-Developmental delay
-Seizures
-Hyperammonemia
-Hypoglycemia
-Hyperammonemic encephalopathy
-Liver dysfunction
-Renal tubular acidosis
-Hyperuricemia
-Hyperammonemic coma
-Growth retardation
-Intellectual disability
-Behavioral problems
-Muscle weakness
-Hypotonia
-Hepatomegaly
-Ascites
-Cardiomyopathy
-Hepatic fibrosis
-Renal failure

Argininosuccinic aciduria is caused by a genetic mutation in the ASS1 gene, which is responsible for producing the enzyme argininosuccinate lyase. This enzyme is necessary for the breakdown of the amino acid arginine. Without it, arginine and its metabolites accumulate in the body, leading to the symptoms of argininosuccinic aciduria.

The primary treatment for Argininosuccinic Aciduria is a low-protein diet, which helps to reduce the amount of nitrogen in the body. Additionally, supplementation with citrulline, arginine, and other amino acids may be recommended to help the body break down proteins and reduce the amount of nitrogen in the body. 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. Genetic inheritance: Argininosuccinic Aciduria is an autosomal recessive disorder, meaning that it is passed down from both parents to their child.

2. Ethnicity: Argininosuccinic Aciduria is more common in certain ethnic groups, such as Ashkenazi Jews, Italians, and French Canadians.

3. Age: Argininosuccinic Aciduria is most commonly diagnosed in infants and young children.

Yes, there is a cure for Argininosuccinic Aciduria. Treatment typically involves a low-protein diet, supplements of arginine and citrulline, and medications to reduce ammonia levels in the blood. In some cases, a liver transplant may be necessary.