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Adenine phosphoribosyltransferase deficiency

Disease Export to PDF
Name:
Adenine phosphoribosyltransferase deficiency
Description:
A rare genetic nephropathy secondary to a disorder of purine metabolism characterized by the formation and hyperexcretion of 2,8-dihydroxyadenine (2,8-DHA) in urine, causing urolithiasis and crystalline nephropathy.
ORPHAcode:
976
Synonyms:
2,8-dihydroxyadenine urolithiasis
APRT deficiency
XREF(s):
Orphanet
ICD-10
OMIM
Analyte(s):
APRT
Created:
13 May 2019 - 01:02
Changed:
01 May 2022 - 06:55