Nine cases of Alkaptonuria in one family in southern Jordan

Abstract

Alkaptonuria is a rare autosomal recessive metabolic disorder characterized by a deficiency of homogentisate 1,2-dioxygenase (HGO) in the liver. This results in excretion of large quantities of homogentisic acid (HGA) (also called alkapton) in the urine and a slowly progressive deposition of homogentisic acid and its oxidative product in connective tissues. Clinical characteristic features of alkaptonuria are darkening of urine, bluish-dark pigmentation of connective tissues (ochronosis) and arthritis of large joints and spine. Cardiovascular and genitourinary systems may also be affected. In this report, we present the initial results of screening family members with history of alkaptonuria in southern region of Jordan. We present 9 cases of alkaptonuria (two males and seven females) in one Jordanian family. The history, signs and symptoms, diagnostic techniques and treatment options of alkaptonuria are reviewed in this article.

Twelve novel HGD gene variants identified in 99 alkaptonuria patients: focus on ‘black bone disease’ in Italy

“…Recently, several new AKU cases were also reported in southern Jordan, 15 in villages characterised by a high level of consanguineous marriages, thus a founder effect is expected. Surprisingly, five different variants were reported in them.…”

“…12 This country and the Dominican Republic exhibit prevalence of AKU of up to 1:19 000. 13,14 Recently, a high number of AKU cases were also found in Jordan 15 and India, 10 indicating that the overall prevalence of this disease in some countries might be underestimated.…”

A Previously Undiagnosed Case of Alkaptonuria: A Case Report

“…This large number of AKU patients in a small country with a population of only five million is due to the large number of consanguineous marriages. [9] In this study, we reported on our experience with a patient who had an advanced case of AKU that had previously gone undiagnosed. Because the diagnosis occurred at the relatively late age of 58, the main characteristic features of the disease, such as involvement of the spine, hips, and knees along with the typical radiological signs were already present.…”

“…Of these cases, nine were identified in just one family. [9] In this article, we present an advanced case of AKU with typical clinical manifestations in southern Jordan in which we describe the clinical, biochemical, and radiological findings.…”

Spontaneous Achilles tendon rupture in alkaptonuria

“…His mother and 8 brothers and sisters have been diagnosed with AKU 6 years ago, and his parents were related prior to their marriage (consanguineous marriage). 10 It must be emphasized that the patient developed most of the orthopedic manifestations of the disease much earlier than typical presentations; he developed back pain and arthritis of both hip and knee joints that progressed rapidly after the age of 25. Such early manifestations are rarely reported.…”