Recent advances in management of alkaptonuria (invited review; best practice article)

@article{Ranganath2013RecentAI,
  title={Recent advances in management of alkaptonuria (invited review; best practice article)},
  author={Lakshminarayan R. Ranganath and Jonathan C. Jarvis and James Anthony Gallagher},
  journal={Journal of Clinical Pathology},
  year={2013},
  volume={66},
  pages={367 - 373}
}
Alkaptonuria (AKU) is an autosomal recessive condition arising as a result of a genetic deficiency of the enzyme homogentisate 1,2 dioxygenase and characterised by accumulation of homogentisic acid (HGA). Oxidative conversion of HGA leads to production of a melanin-like polymer in a process termed ochronosis. The binding of ochronotic pigment to the connective tissues of the body leads to multisystem disorder dominated by premature severe spondylo-arthropathy. Other systemic features include… Expand
Acute fatal metabolic complications in alkaptonuria
TLDR
The role of red blood cell in maintaining the redox state of the body is reviewed in the context of AKU and the potential use of nitisinone for the management of patients suffering from the acute metabolic decompensation in AKU is proposed as an alternative strategy. Expand
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TLDR
Novel findings are presented to inform the future licensing process for the use of nitisinone in AKU and the safety of implementing treatment in younger patients are investigated and the lability of the arteriovenous metabolome relating to AKU is reported on. Expand
Ochronotic Arthropathy: Two Case Reports from a Developing Country
TLDR
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TLDR
A comprehensive evaluation of an atypical 46-year-old Caucasian male who developed all clinical diagnostic symptoms of AKU by 25 years of age, well before the typical age mentioned in many reviews. Expand
Subclinical ochronosis features in alkaptonuria: a cross-sectional study
TLDR
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TLDR
A case of an 81 year old male with a 5 year history of low back pain and progressively increasing stiffness of the spine, incorrectly diagnosed as ankylosing spondylitis and treated with non steroid anti-inflammatory drugs (NSAIDs) and sulfasalazine is reported. Expand
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TLDR
In the last decade, a major focus has been on an unlicensed disease-modifying therapy called nitisinone, shown to be highly efficacious in reducing homogentisic acid, and it is hoped this will halt ochronosis, thus limiting the clinical complications associated with the disease. Expand
Alkaptonuria
TLDR
Recent developments in AKU research have led to new understanding of the disease, and further study of the AKU arthropathy has the potential to influence therapy in the management of osteoarthritis. Expand
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TLDR
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Presentation of 14 alkaptonuria patients from Turkey
TLDR
The HGD gene mutations in 14 patients diagnosed with alkaptonuria and followed up from 1990 to 2014 were retrospectively evaluated, finding the most common mutation was p.Ser59AlafsX52 for the H GD gene followed by p.asn219Ser, which can be considered specific to the Turkish population. Expand
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TLDR
This report describes a woman, 69 years of age, with a history of dark urine since childhood and progressive pigmentation of the skin, sclera, and auricular cartilages, who presented with a low trauma fracture of the distal femur despite two years of alendroate therapy. Expand
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Although nitisinone can reduce HGA production in humans with homogentisate 1,2-dioxygenase deficiency, the long-term safety and efficacy of this treatment require further evaluation. Expand
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TLDR
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TLDR
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TLDR
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TLDR
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