U.S. flag

An official website of the United States government

GTR Home > Conditions/Phenotypes > Adenine phosphoribosyltransferase deficiency

Adenine phosphoribosyltransferase deficiency

Synonyms
Dihydroxyadeninuria; NEPHROLITHIASIS, DHA; UROLITHIASIS, 2,8-DIHYDROXYADENINE
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Excerpted from the GeneReview: Adenine Phosphoribosyltransferase Deficiency
Adenine phosphoribosyltransferase (APRT) deficiency is characterized by excessive production and renal excretion of 2,8-dihydroxyadenine (DHA), which leads to kidney stone formation and crystal-induced kidney damage (i.e., DHA crystal nephropathy) causing acute kidney injury episodes and progressive chronic kidney disease (CKD). Kidney stones, the most common clinical manifestation of APRT deficiency, can occur at any age; in at least 50% of affected persons symptoms do not occur until adulthood. If adequate treatment is not provided, approximately 20%-25% of affected individuals develop end-stage renal disease (ESRD), usually in adult life.
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
References
Chapter Notes
Authors:
Vidar Orn Edvardsson
Amrik Sahota
Runolfur Palsson
view full author information

Available tests

31 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (29 available)

Biochemical Genetics Tests

Molecular Genetics Tests

Research tests

Genes See tests for all associated and related genes

  • Also known as: AMP, APRTD, APRT
    Summary: adenine phosphoribosyltransferase

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

Show allHide all

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.