2004
DOI: 10.3121/cmr.2.4.209
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Alkaptonuric Ochronosis with Aortic Valve and Joint Replacements and Femoral Fracture: A Case Report and Literature Review

Abstract: Alkaptonuria is a rare autosomal recessive disorder of metabolism caused by deficiency of homogentisic acid oxidase and resulting in accumulation of homogentisic acid in collagenous structures. It is characterized by homogentisic aciduria, bluish-black discoloration of connective tissues (ochronosis) and arthropathy of large joints. Less common manifestations include cardiovascular abnormalities, renal, urethral and prostate calculi. Bone fractures are unusual in ochronosis.In this report, we describe a woman,… Show more

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Cited by 90 publications
(76 citation statements)
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“…Cardiac manifestations include aortic or mitral valvulitis, formation of atherosclerotic plaques containing cholesterol and fat, calcification of the coronary arteries and eventually myocardial infarction (11). However, in our case no cardiac manifestations were detected.…”
Section: Discussioncontrasting
confidence: 52%
“…Cardiac manifestations include aortic or mitral valvulitis, formation of atherosclerotic plaques containing cholesterol and fat, calcification of the coronary arteries and eventually myocardial infarction (11). However, in our case no cardiac manifestations were detected.…”
Section: Discussioncontrasting
confidence: 52%
“…This occurs due to the deposition of ochronotic pigment in the intervertebral discs and articular cartilage of the large joints. [13] Ochronotic spondyloarthropathy resembles ankylosing spondylitis (AS) in its damage to the spine and large joints; however, it differs in that it spares the sacroiliac joints and does not have the annular ossification, syndesmosis, or bamboo spine that are associated with AKU. [14] In addition, AS is also indicated by the appearance of thin, vertical syndesmophytes, severe involvement of the apophyseal facet joints, and erosion and fusion of the sacroiliac joints.…”
Section: Discussionmentioning
confidence: 99%
“…Aortic valve stenosis is a frequent finding, often requiring surgical replacement. 23 It may be that mechanical forces play a key role in mediating ochronosis given that there appears to be little pigmentation in the venous component of the circulation compared with the arterial side. 17 Interestingly, while HGD expression and HGA metabolism occur in the liver, there are no reports to demonstrate that these tissues-along with those of the pancreas, gastrointestinal, lymphoreticular, or endocrine organs-develop ochronosis.…”
Section: Clinical Featuresmentioning
confidence: 99%
“…21 Organs affected are: large joints, cardiovascular system, kidney, skin, and glands. 4,7,[22][23][24] Other manifestations include: renal, prostate, gall bladder, and salivary gland stones, ruptures of tendons and ligaments, osteopenia, and fractures. 4,[25][26][27] Cardiac manifestations of the disease are not uncommon.…”
Section: Clinical Featuresmentioning
confidence: 99%