Alkaptonuria

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We were unfortunately unable to download the information for this disease from OMIM.



Prevalence of clinical parameters (%)







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Pubmed id number as a reference Organ system affected
Number of patients in the reference Percent affected patients (Between 0 and 1, eg. 0.1 = 10%)
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List of symptoms



Symptom/sign Organ system Percent affected Pubmed id Added on(yyyy-mm-dd) Edit/add reference
Dark urine urinary 100 % 22147108 2012-05-09
Increased plasma HGA circulatory 100 % 12501223 2012-05-09
Increased urin HGA urinary 100 % 12501223 2012-05-09
Kyphosis skeletal 53 % 12501223 2012-05-09
Increased urin collagen N-telopeptide urinary 41 % 12501223 2012-05-09
Lumbar pain skeletal 40 % 22147108 2012-05-09
Joint effusion skeletal 40 % 12501223 2012-05-09
Ear pigmentation integumentary 35 % 22147108 2012-05-09
Eye pigmentation integumentary 35 % 22147108 2012-05-09
Arthralgia skeletal 35 % 22147108 2012-05-09
Teeth pigmentation digestive 33 % 22147108 2012-05-09
Kidney stone urinary 20 % 22147108 2012-05-09
Elevated erythrocyte sedimentation rate circulatory 19 % 12501223 2012-05-09



List of references:


Identification of forty cases with alkaptonuria in one village in Jordan.
Mohammed Al-Sbou, Nesrin Mwafi, Mohammad Abu Lubad,

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.

Rheumatology international - Dec 2012



Natural history of alkaptonuria.
Chanika Phornphutkul, Wendy J Introne, Monique B Perry, Isa Bernardini, Mark D Murphey, Diana L Fitzpatrick, Paul D Anderson, Marjan Huizing, Yair Anikster, Lynn H Gerber, William A Gahl,

Alkaptonuria, caused by mutations in the HGO gene and a deficiency of homogentisate 1,2-dioxygenase, results in an accumulation of homogentisic acid (HGA), ochronosis, and destruction of connective tissue. There is no effective therapy for this disorder, although nitisinone inhibits the enzyme that produces HGA. We performed a study to delineate the natural history of alkaptonuria.

The New England journal of medicine - Dec 2002