Adenine phosphoribosyltransferase deficiency
From Wikipedia, the free encyclopedia
| Adenine phosphoribosyltransferase deficiency Classification and external resources |
|
 |
|
|---|---|
| Dihydroxyadenine, an insoluble purine | |
| ICD-10 | E79. |
| ICD-9 | 277.2 |
| OMIM | 102600 |
| DiseasesDB | 32632 |
Adenine phosphoribosyltransferase deficiency (also called 2,8 dihydroxyadenine urolithiasis) is an autosomal recessive metabolic disorder.
[edit] Causes
It is associated with a mutation in adenine phosphoribosyltransferase.[1]
[edit] Presentation
It results in accumulation of the insoluble purine 2,8-dihydroxyadenine.[2]
It can result in nephrolithiasis, acute renal failure and permanent kidney damage.
[edit] References
- ^ Terai C, Hakoda M, Yamanaka H, et al (November 1995). "Adenine phosphoribosyltransferase deficiency identified by urinary sediment analysis: cellular and molecular confirmation". Clin. Genet. 48 (5): 246–50. PMID 8825602.
- ^ Funato T, Nishiyama Y, Ioritani N, et al (2000). "<274::AID-JCLA5>3.0.CO;2-2 Detection of mutations in adenine phosphoribosyltransferase (APRT) deficiency using the LightCycler system". J. Clin. Lab. Anal. 14 (6): 274–9. PMID 11138609.
|
||||||||||||||||||||||||
 |
This genetic disorder article is a stub. You can help Wikipedia by expanding it. |
