An Enigmatic Color Change of Urine: Alkaptonuria Alkaptonuria
Journal of Pediatric Nephrology,
Vol. 10 No. 4 (2022),
15 March 2023
https://doi.org/10.22037/jpn.v10i4.40265
Abstract
Alkaptonuria is an exceedingly rare tyrosine metabolism disorder of autosomal recessive
inheritance. Only a few instances of it have been observed in Bangladeshi children. Here,
we talk about a 2-year-old boy who had dark urine and was later found to have alkaptonuria.
- Alkaptanuria
- Dark urine
How to Cite
References
Zelkova A, Sedlackova T, Radvansky J, Polakova H,
Nemethova M, Aquarion R, et al. Identification of 11 novel
homogentisate 1,2 dioxygenase variants in alkaptonuria
patients and establishment of a novel lovd-based HGD mutation
database. In: JIMD Reports. Heidelberg: Springer; 2012.
[DOI:10.1007/8904_2011_68] [PMID] [PMCID]
Phornphutkul C, Introne WJ, Perry MB, Bernardini I, Murphey
MD, Fitzpatrick DL, et al. Natural history of alkaptonuria.
N Engl J Med. 2002; 347(26):2111-21. [DOI:10.1056/NEJMoa021736]
[PMID]
FJ CS. Ochronosis: A case report with multisystemic affectation,
including pericardium. Anales Med Int. 2002; 19(11):583-
[DOI:10.4321/S0212-71992002001100008] [PMID]
Rayana NB, Chahed N, Khochtali S, Ghorbel M, Hamdi R,
Rouis M, et al. Manifestations oculaires de l’ochronose: À propos
d’un cas. J Fr Ophtalmol. 2008; 31(6):624-e1. [DOI:10.1016/
S0181-5512(08)75467-6]
La Du Jr BN. Alcaptonuria and ochronotic arthritis. Mol Biol
Med. 1991; 8(1):31-8. [PMID]
Brueck M, Bandorski D, Kramer W, Schoenburg M, von Gerlach
S, Tillmanns H. Aortic valve stenosis due to alkaptonuria.
J Heart Valve Dis. 2008; 17(1):127-9. [Link]
- Abstract Viewed: 81 times
- pdf Downloaded: 184 times