Adenine phosphoribosyltransferase deficiency

MONDO:0013869

Adenine phosphoribosyltransferase (APRT) deficiency is a rare autosomal recessive (AR) disorder characterized by the formation and hyperexcretion of 2,8-dihydroxyadenine (2,8-DHA) in urine, causing urolithiasis and crystalline nephropathy.

Also known as: 2,8-dihydroxyadenine urolithiasis, 2,8-dihydroxyadeninuria disease, APRT deficiency, adenine phosphoribosyltransferase deficiency, APRTD, Dihydroxyadeninuria, nephrolithiasis, Dha, urolithiasis, 2,8-dihydroxyadenine

6 clinical trials for this condition and its sub-types, 6 tagged with Adenine phosphoribosyltransferase deficiency itself.

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Where it sits in the disease tree

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Part of

↑ Inborn disorder of amino acid metabolism (159) ↑ Inborn disorder of purine metabolism (14)

Including sub-types (6) Tagged with Adenine phosphoribosyltransferase deficiency (6)

Trials to join now! 5 Not yet finished but already full! 1

Newborn screening study aims to catch rare diseases at birth

Diagnosis Ongoing

This study offers voluntary screening for newborns in North Carolina to detect a wide range of rare health conditions early. Using a small blood sample already collected at birth, the program tests for dozens of disorders, including spinal muscular atrophy, cystic fibrosis, and m…

Sponsor: RTI International • Aim: Diagnosis

Last updated Jul 03, 2026 00:00 UTC

Adenine phosphoribosyltransferase deficiency

Where it sits in the disease tree

Newborn screening study aims to catch rare diseases at birth