Adenine phosphoribosyltransferase deficiency

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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 recessive1 metabolic disorder associated with a mutation in the enzyme adenine phosphoribosyltransferase.2

Presentation

The disorder results in accumulation of the insoluble purine 2,8-dihydroxyadenine.3

It can result in nephrolithiasis, acute renal failure and permanent kidney damage.

Adenine phosphoribosyltransferase deficiency has an autosomal recessive pattern of inheritance.

References

  1. ^ Kamatani, N (December 1996). "Adenine phosphoribosyltransferase(APRT) deficiency" (Free full text). Nippon rinsho. Japanese journal of clinical medicine 54 (12): 3321–7. ISSN 0047-1852. PMID 8976113, http://toxnet.nlm.nih.gov/cgi-bin/sis/search/r?dbs+hsdb:@term+@rn+315-30-0. 
  2. ^ Terai, C; Hakoda, M; Yamanaka, H; Kamatani, N; Okai, M; Takahashi, F; Kashiwazaki, S (November 1995). "Adenine phosphoribosyltransferase deficiency identified by urinary sediment analysis: cellular and molecular confirmation". Clinical genetics 48 (5): 246–50. ISSN 0009-9163. PMID 8825602. 
  3. ^ Funato, T; Nishiyama, Y; Ioritani, N; Matsuki, R; Yoshida, K; Kaku, M; Sasaki, T; Ideguchi, H; Ono, J (2000). "Detection of mutations in adenine phosphoribosyltransferase (APRT) deficiency using the LightCycler system". Journal of clinical laboratory analysis 14 (6): 274–9. doi:10.1002/1098-2825(20001212)14:6<274::AID-JCLA5>3.0.CO;2-2. ISSN 0887-8013. PMID 11138609. 

External links

v • d • e
Inborn errors of purine-pyrimidine metabolism (E79, 277.2)
Purine metabolism
Anabolism
Lesch-Nyhan syndrome/Hyperuricemia - Adenine phosphoribosyltransferase deficiency
Catabolism
Pyrimidine metabolism
Anabolism
Catabolism


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