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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H00195 |
Adenine phosphoribosyltransferase deficiency 2,8-Dihydroxyadenine urolithiasis |
Adenine phosphoribosyltransferase deficiency (APRTD) is an autosomal recessive disorder of purine metabolism and causes urolithiasis due to accumulation of the insoluble purine 2,8-dihydroxyadenine. | Inherited metabolic disorder | APRT [HSA:353] [KO:K00759] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |