Identification of forty cases with alkaptonuria in one village in Jordan

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.

A rare presentation of alkaptonuria: Extensive prostatic calculi with highlight of stones found in a unique paraprostatic urethral diverticulum

“…PKU has a very low prevalence (1:100,000–250,000) in most ethnic groups [2] . The prevalence of AKU is unknown in Jordan; however, in a study done in 2009 in a single village in southern region of Jordan, forty cases with AKU were identified among 17 screened families with history of AKU, the study concluded that prevalence of AKU among Jordanian is likely to be higher than the worldwide rates due to high rates of consanguineous marriages [3] .…”

Urological Aspects (Dynamic Bladder and Urethral Function, Urinary Tract Stones and Calcifications) in Patients with Alkaptonuria: A Case Control Study

“…Alkaptonuria is a rare congenital disease. It is inherited in an autosomal recessive pattern (2,3), with a 25% chance of disease in babies when both parents are affected, a 50% chance of being an asymptomatic carrier and a 25% chance of being unaffected and not a carrier (3). This metabolism disorder has a very low incidence (1 in 250,000), and is equally prevalent in females and males, with a higher morbidity and greater systemic effect observed in male patients.…”

Primer reporte de alcaptonuria en el Perú

“…Esta enfermedad se caracteriza por una triada cronológica de signos: alcaptonuria, ocronosis y artropatía ocronótica. Hasta el momento se han reportado más de 700 casos de alcaptonuria en el mundo, siendo unas de las series más grandes las reportada por Al-Sbou, en Jordania, donde encontró 40 casos (5) y la revisión de casos de Aquaron, en Francia, con 96 casos y una prevalencia calculada para el país de 1:680 000 (1) . En una revisión realizada en los buscadores de Pubmed, Lilacs y Scielo no se encontraron series ni reportes de casos de esta enfermedad en el Perú, este sería el primer caso reportado de esta enfermedad.…”