What is AICA-ribosiduria?
AICA-ribosiduria is an inherited disorder caused by a deficiency of the enzyme AICA-ribosidase. This enzyme is responsible for breaking down the amino acid AICA-ribose, which is found in the body. People with this disorder have an accumulation of AICA-ribose in their cells, which can lead to a variety of symptoms, including seizures, mental retardation, and movement disorders.
What are the symptoms of AICA-ribosiduria?
The symptoms of AICA-ribosiduria vary depending on the severity of the condition. Common symptoms include:
-Hypotonia (low muscle tone)
What are the causes of AICA-ribosiduria?
AICA-ribosiduria is caused by a deficiency of the enzyme adenosine deaminase (ADA). This enzyme is responsible for breaking down the nucleotide adenosine, which is a building block of DNA and RNA. Without ADA, adenosine builds up in the body and is excreted in the urine, resulting in AICA-ribosiduria.
What are the treatments for AICA-ribosiduria?
Treatment for AICA-ribosiduria typically involves dietary management and supplementation with riboflavin (vitamin B2). Dietary management involves avoiding foods that are high in purines, such as organ meats, anchovies, sardines, and herring. Supplementation with riboflavin helps to increase the activity of the enzyme AICA-ribosiduria, which helps to break down purines and reduce their levels in the body. In some cases, medications such as allopurinol may be prescribed to reduce the levels of uric acid in the body.
What are the risk factors for AICA-ribosiduria?
1. Genetic predisposition: AICA-ribosiduria is caused by a genetic mutation, so individuals with a family history of the disorder are at higher risk.
2. Age: AICA-ribosiduria is more common in children and young adults.
3. Gender: AICA-ribosiduria is more common in males than females.
4. Ethnicity: AICA-ribosiduria is more common in individuals of Mediterranean descent.
5. Certain medications: Certain medications, such as anticonvulsants, can increase the risk of AICA-ribosiduria.
Is there a cure/medications for AICA-ribosiduria?
There is currently no cure for AICA-ribosiduria. However, medications such as riboflavin, thiamine, and biotin may be prescribed to help manage the symptoms. Additionally, dietary changes may be recommended to help reduce the amount of AICA-ribosiduria in the body.