Frequently Asked Questions about adenine phosphoribosyltransferase deficiency (APRT)
I have APRT deficiency. Are my children at risk?
Adenine phosphoribosyltransferase (APRT) deficiency is inherited in an autosomal recessive manner, meaning that individuals who develop the disease have received one defective copy of the APRT gene from each parent. Thus that if both parents have the defective gene, 25% of the children will have the disease, 50% will be asymptomatic but carry the defective gene, and 25% neither carry the defective gene nor have APRT deficiency. If only one parent has the disease the risk for the children is minimal.
I have kidney stone disease. Is it possible that I have APRT deficiency?
If you have kidney stones that are not seen on a regular x-ray film but are detected with ultrasound or computerized tomography (CT) scan, the stones will most likely be composed of uric acid. However, APRT deficiency and 2,8-dihydroxyadeninuria is also a possible cause of the kidney stones. If you have radiolucent kidney stones you should ask your physician to look for the typical 2,8-dihydroxyadenine crystals in your urine with a microscope (http//: hyperlink to the RKSC website where we will publish a number of photomicrographs of the crystals).