adenine phosphoribosyltransferase deficiency
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.
MONDO:0019743
obsolete nephropathy secondary to a storage or other metabolic disease (obsolete MONDO:0019743)
excluded_subClassOf
MONDO:0004736
inborn disorder of amino acid metabolism
is_a
MONDO:0019236
inborn disorder of purine metabolism
is_a
2,8-dihydroxyadenine urolithiasis
exact
2,8-dihydroxyadeninuria disease
exact
APRT deficiency
exact
APRTD
related
Dihydroxyadeninuria
related
adenine phosphoribosyltransferase deficiency
exact
SPAC23A1.03