adenine phosphoribosyltransferase deficiency
ICD-10: E79MeSH: C538228ORPHA: 9761 Treatment Available
Overview
amino acid metabolic disorder characterized by the formation 2,8-dihydroxyadenine stones and renal failure secondary to intratubular crystalline precipitation. It has an autosomal recessive inheritance pattern
Available Treatments (1)
| Drug | Form | Status | Countries | Lead Time |
|---|---|---|---|---|
| allopurinol | Oral tablet, 100mg, 300mg | FDA Approved, EMA Approved | 11 | 2d |
Clinical Presentation
Signs and symptoms associated with adenine phosphoribosyltransferase deficiency, sourced from HPO and Orphanet clinical annotations.
Abnormal circulating enzyme concentration or activityRenal insufficiencyProteinuriaNephrolithiasisHypertensionAcute kidney injuryChronic kidney diseaseDysuriaRecurrent urinary tract infectionsUrinary retentionUrinary hesitancyUric acid nephrolithiasisStage 5 chronic kidney diseaseAtrial fibrillationAbdominal colicMacroscopic hematuriaFlank painOliguria
Classification & Codes
ICD-10 Code
E79MeSH Code
C538228Orphanet Code
ORPHA:976adenine phosphoribosyltransferase deficiency
| ICD-10 | E79 |
| MeSH | C538228 |
| Orphanet | ORPHA:976 |
| Treatments | 1 drug(s) |
| Symptoms on record | 18 signs |
| Status | published |
Treatment Summary
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO