Adult-onset citrullinemia type I (CTLN1) is a rare inherited metabolic disorder caused by a deficiency of the enzyme argininosuccinate synthetase (ASS). This enzyme is responsible for the conversion of citrulline to arginine, an essential amino acid. People with CTLN1 typically experience episodes of high ammonia levels in the blood (hyperammonemia) that can lead to neurological symptoms such as confusion, lethargy, and coma. Treatment typically involves a low-protein diet, medications to reduce ammonia levels, and supplementation with arginine.

The symptoms of Adult-onset citrullinemia type I can vary from person to person, but may include:

-Fatigue
-Weakness
-Loss of appetite
-Nausea
-Vomiting
-Abdominal pain
-Diarrhea
-Weight loss
-Confusion
-Coma
-Liver failure
-High levels of ammonia in the blood
-High levels of citrulline in the blood
-Low levels of arginine in the blood
-Low levels of ornithine in the blood
-Low levels of glutamine in the blood
-Low levels of creatine in the blood
-Low levels of carnitine in the blood
-Low levels of branched-chain amino acids in the blood

Adult-onset citrullinemia type I is caused by mutations in the SLC25A13 gene. This gene provides instructions for making a protein that is involved in the transport of molecules into and out of mitochondria, which are the energy-producing structures in cells. Mutations in the SLC25A13 gene reduce the amount of functional protein, which disrupts the transport of molecules and leads to the buildup of citrulline and other substances in the body.

1. Dietary modifications: A low-protein diet is recommended to reduce the amount of ammonia produced in the body.

2. Medications: Medications such as L-ornithine-L-aspartate (LOLA) and sodium benzoate can be used to reduce the levels of ammonia in the body.

3. Liver transplant: In some cases, a liver transplant may be necessary to treat the condition.

4. Gene therapy: Gene therapy is being studied as a potential treatment for adult-onset citrullinemia type I.

1. Genetic predisposition: Adult-onset citrullinemia type I is caused by a genetic mutation in the SLC25A13 gene.

2. Age: Adult-onset citrullinemia type I typically occurs in adults over the age of 40.

3. Gender: Adult-onset citrullinemia type I is more common in males than females.

4. Ethnicity: Adult-onset citrullinemia type I is more common in people of Japanese and Korean descent.

Yes, there is a cure for Adult-onset citrullinemia type I. The treatment involves a low-protein diet and the use of medications such as sodium benzoate, arginine, and ornithine. These medications help to reduce the levels of ammonia in the blood, which can help to reduce the symptoms of the condition. Additionally, regular monitoring of ammonia levels is recommended to ensure that the treatment is effective.