Alkaptonuria

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Prevalence (%) of clinical parameters based on data from 2 references describing 98 individuals







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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,



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,



The New England journal of medicine - Dec 2002