2,8 dihydroxy-adenine urolithiasis
| 2,8 dihydroxy-adenine urolithiasis | |
| ICD-10 | E79 |
|---|---|
| ICD-9 | 277.2 |
| OMIM | 102600 |
| DiseasesDB | 32632 |
File:Autorecessive.svg Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Aarti Narayan, M.B.B.S [2]
Synonyms and keywords: Adenine phosphoribosyltransferase deficiency; AMP pyrophorylase deficiency; APRT deficiency
Overview
2,8 dihydroxy-adenine urolithiasis is a genetic disorder, in which deficiency of the enzyme adenine phosphoribosyltransferase leads to nephrolithiasis, permanent kidney damage and eventually chronic renal failure.
Pathophysiology
Genetics
- It is an autosomal recessive disorder associated with a mutation in the enzyme adenine phosphoribosyltransferase.
- It catalyzes the formation of AMP from adenine and phosphoribosylpyrophosphate. It can act as a salvage enzyme for recycling of adenine into nucleic acids.
- Deficiency of this enzyme leads to excess formation and hyperexcretion of 2,8 dihydroxy adenine (DHA) into urine.
- Low solubility of DHA results in precipitation of this compound and form crystals and stones.