Rheumatology International

, Volume 32, Issue 12, pp 3737–3740 | Cite as

Identification of forty cases with alkaptonuria in one village in Jordan

  • Mohammed Al-sbou
  • Nesrin Mwafi
  • Mohammad Abu Lubad
Original Article
First Online:
Received:
Accepted:

Abstract

Alkaptonuria (AKU) is one of the four initially identified inborn errors of metabolism. The prevalence of AKU is unknown in Jordan. Therefore, a research project was started in April 2009 at the Faculty of Medicine/Mutah University in southern Jordan. The aims of the project were to identify people with AKU, to screen all family members with history of AKU, and to increase the awareness about the disease among health care professionals and the community in southern Jordan. Targeted family screening method was used to identify patients with AKU. In this paper, we present preliminary results of screening 17 families with history of AKU in a single village in southern region of Jordan. Forty cases with AKU were identified in this village (age range, 1–60 years). Early cases with AKU were diagnosed through out this study, two-third of patients (n = 28) were under the age of thirty. Interestingly, nine cases with AKU were identified in one family. Our experience suggests that for the identification of cases with AKU where consanguinity is common, the focus for screening should be extended to all family members. The prevalence of AKU among Jordanian is likely to be greater than the prevalence rates worldwide due to high rates of consanguineous marriages. Further studies and effective screening programs are needed to detect undiagnosed cases of AKU, to provide genetic counseling, and ultimately to prevent the occurrence of new cases of AKU in Jordan.

Keywords

Ochronosis Arthritis Homogentisic acid 
This is a preview of subscription content, log in to check access.

Notes

Acknowledgments

The authors would like to thank the Deanship of Academic Research at Mutah University for providing funding to Alkaptonuria research project.

Conflict of interest

The authors declare that they have no conflict of interest.

References

  1. 1.
    Fernandez-Canon JM, Granadino B, Beltran-Valero de Bernabe D, Renedo M, Fernandez-Ruiz E, Penalva MA et al (1996) The molecular basis of alkaptonuria. Nat Genet 14(1):19–24PubMedCrossRefGoogle Scholar
  2. 2.
    La Du BN, Zannoni VG, Laster L, Seegmiller JE (1958) The nature of the defect in tyrosine metabolism in alcaptonuria. J Biol Chem 230(1):251–260PubMedGoogle Scholar
  3. 3.
    Zannoni VG, Lomtevas N, Goldfinger S (1969) Oxidation of homogentisic acid to ochronotic pigment in connective tissue. Biochim Biophys Acta 177(1):94–105PubMedCrossRefGoogle Scholar
  4. 4.
    Wilke A, Steverding D (2009) Ochronosis as an unusual cause of valvular defect: a case report. J Med Case Reports 3:9302CrossRefGoogle Scholar
  5. 5.
    Borman P, Bodur H, Ciliz D (2002) Ochronotic arthropathy. Rheumatol Int 21(5):205–209PubMedCrossRefGoogle Scholar
  6. 6.
    Wolff JA, Barshop B, Nyhan WL, Leslie J, Seegmiller JE, Gruber H et al (1989) Effects of ascorbic acid in alkaptonuria: alterations in benzoquinone acetic acid and an ontogenic effect in infancy. Pediatr Res 26(2):140–144PubMedCrossRefGoogle Scholar
  7. 7.
    Mayatepek E, Kallas K, Anninos A, Muller E (1998) Effects of ascorbic acid and low-protein diet in alkaptonuria. Eur J Pediatr 157(10):867–868PubMedCrossRefGoogle Scholar
  8. 8.
    El-Khushman HM (2007) Clinical quiz. A 69-year-old man with a thick dark pigmentation on his hands, and low back pain. Saudi Med J 28(11):1761–1762PubMedGoogle Scholar
  9. 9.
    Stenn FF, Milgram JW, Lee SL, Weigand RJ, Veis A (1977) Biochemical identification of homogentisic acid pigment in an ochronotic Egyptian mummy. Science 197(4303):566–568PubMedCrossRefGoogle Scholar
  10. 10.
    Idem (1908) The Croonian lectures on inborn errors of metabolism. Lecture II. Alkaptonuria. Lancet 2:73–79Google Scholar
  11. 11.
    Milch RA (1960) Studies of alcaptonuria: inheritance of 47 cases in eight highly inter-related dominican kindreds. Am J Hum Genet 12(1):76–85PubMedGoogle Scholar
  12. 12.
    Srsen S, Cisarik F, Pasztor L, Harmecko L (1978) Alkaptonuria in the Trencin district of Czechoslovakia. Am J Med Genet 2(2):159–166PubMedCrossRefGoogle Scholar
  13. 13.
    Zatkova A, de Bernabe DB, Polakova H, Zvarik M, Ferakova E, Bosak V et al (2000) High frequency of alkaptonuria in Slovakia: evidence for the appearance of multiple mutations in HGO involving different mutational hot spots. Am J Hum Genet 67(5):1333–1339PubMedGoogle Scholar
  14. 14.
    Tadmouri GO, Nair P, Obeid T, Al Ali MT, Al Khaja N, Hamamy HA (2009) Consanguinity and reproductive health among Arabs. Reprod Health 6:17PubMedCrossRefGoogle Scholar
  15. 15.
    Al-sbou M, Mwafi N (2010) Nine cases of Alkaptonuria in one family in southern Jordan. Rheumatol Int. doi: 10.1007/s00296-010-1701-1 (Epub ahead of print)
  16. 16.
    John SS, Padhan P, Mathews JV, David S (2009) Acute anterior uveitis as the initial presentation of alkaptonuria. J Postgrad Med 55(1):35–37PubMedCrossRefGoogle Scholar

Copyright information

© Springer-Verlag 2011

Authors and Affiliations

  • Mohammed Al-sbou
    • 1
  • Nesrin Mwafi
    • 1
  • Mohammad Abu Lubad
    • 1
  1. 1.Department of Pharmacology, Alkaptonuria Research Office, Faculty of MedicineMutah UniversityMutah, KarakJordan

Personalised recommendations