Adenine phosphoribosyltransferase deficiency (APRT deficiency) is an inherited disorder caused by a deficiency of the enzyme adenine phosphoribosyltransferase (APRT). This enzyme is involved in the breakdown of adenine, a component of DNA and RNA. Without enough of this enzyme, adenine builds up in the body and can cause kidney stones, gout, and other health problems.

The symptoms of Adenine phosphoribosyltransferase deficiency can vary from person to person, but may include:

-Developmental delay
-Seizures
-Growth retardation
-Feeding difficulties
-Hepatomegaly (enlarged liver)
-Hyperuricemia (high levels of uric acid in the blood)
-Hyperammonemia (high levels of ammonia in the blood)
-Hypoglycemia (low blood sugar)
-Hypocalcemia (low calcium levels in the blood)
-Hyperbilirubinemia (high levels of bilirubin in the blood)
-Renal tubular acidosis (a disorder of the kidneys)
-Neurological abnormalities
-Cognitive impairment
-Behavioral problems
-Hearing

Adenine phosphoribosyltransferase (APRT) deficiency is an inherited disorder caused by mutations in the APRT gene. This gene provides instructions for making an enzyme called adenine phosphoribosyltransferase, which is involved in the breakdown of certain molecules called purines. Purines are components of DNA and RNA, which are the molecules that carry genetic information. Mutations in the APRT gene reduce or eliminate the activity of the adenine phosphoribosyltransferase enzyme, leading to a buildup of purines in the body. This buildup can cause kidney stones, gout, and other health problems.

1. Bone Marrow Transplant: A bone marrow transplant is the only known cure for adenine phosphoribosyltransferase deficiency. This procedure involves replacing the defective bone marrow with healthy bone marrow from a donor.

2. Enzyme Replacement Therapy: Enzyme replacement therapy is a treatment option for adenine phosphoribosyltransferase deficiency. This involves injecting the missing enzyme into the body to help replace the missing enzyme.

3. Dietary Modifications: Dietary modifications may be recommended to help manage the symptoms of adenine phosphoribosyltransferase deficiency. This may include avoiding certain foods that are high in purines, such as organ meats, anchovies, and sardines.

4. Medications: Medications may be prescribed to help manage the symptoms of adenine phosphoribos

1. Family history of Adenine phosphoribosyltransferase deficiency
2. Genetic mutations in the APRT gene
3. Exposure to certain medications, such as 6-mercaptopurine or azathioprine
4. Exposure to certain environmental toxins, such as lead or mercury
5. Advanced age
6. Certain ethnic backgrounds, such as African-American or Hispanic

Yes, there is a medication available for Adenine phosphoribosyltransferase deficiency. The medication is called PEG-ADA (Pegademase Bovine). It is an enzyme replacement therapy that helps to replace the missing enzyme in the body. It is administered intravenously and can help to reduce the symptoms of the disorder.