Read more about this disease, some with Classification – Types – Signs and symptoms – Genetics – Pathophysiology – Diagnosis – Screening – Prevention – Treatment and management – Cures and much more, some including pictures and video when available.
Adenine phosphoribosyltransferase deficiency (also called 2,8 dihydroxyadenine urolithiasis) is an autosomal recessive[1] metabolic disorder associated with a mutation in the enzyme adenine phosphoribosyltransferase.[2]
The disorder results in accumulation of the insoluble purine 2,8-dihydroxyadenine.[3]
It can result in nephrolithiasis, acute renal failure and permanent kidney damage.
[tubepress mode=’tag’, tagValue=’Adenine phosphoribosyltransferase deficiency’]