adenine phosphoribosyltransferase deficiency

Adenine phosphoribosyltransferase (APRT) deficiency is a rare autosomal recessive disorder in which people produce and excrete high levels of a substance called 2,8-dihydroxyadenine (2,8-DHA). This condition can lead to the formation of kidney stones (urolithiasis) and crystal deposits in the kidneys (crystalline nephropathy). Because APRT deficiency is inherited in an autosomal recessive pattern, a person needs to receive a faulty copy of the APRT gene from each parent. The buildup of 2,8-DHA is the hallmark of this condition and is the key factor behind its kidney-related complications.

People with APRT deficiency often have issues related to kidney stones. These stones may lead to pain in the back or side, difficulty with urination, and sometimes other signs of kidney discomfort. In some cases, the buildup of crystals in the kidneys can lead to kidney problems over time.

APRT deficiency is caused by changes in the APRT gene, and it follows an autosomal recessive inheritance pattern. This means that people with the condition have inherited one altered copy of the APRT gene from each parent.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about current research and future directions for this condition is currently limited.