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Arnoux J.-B.,Reference Center for Inherited Metabolic Diseases Necker Enfants Malades Hospital | Le Quan Sang K.-H.,Reference Center for Inherited Metabolic Diseases Necker Enfants Malades Hospital | Brassier A.,Reference Center for Inherited Metabolic Diseases Necker Enfants Malades Hospital | Grisel C.,Reference Center for Inherited Metabolic Diseases Necker Enfants Malades Hospital | And 8 more authors.
Journal of Inherited Metabolic Disease | Year: 2015

Alkaptonuria (AKU) is caused by deficiency of the enzyme homogentisate 1,2 dioxygenase. It results in an accumulation of homogentisate which oxidizes spontaneously to benzoquinone acetate, a highly oxidant compound, which polymerises to a melanin-like structure, in a process called ochronosis. Asymptomatic during childhood, this accumulation will lead from the second decade of life to a progressive and severe spondylo-arthopathy, associated with multisystem involvement: osteoporosis/fractures, stones (renal, prostatic, gall bladder, salivary glands), ruptures of tendons/muscle/ligaments, renal failure and aortic valve disease. The pathophysiological mechanisms of AKU remain poorly understood, but recent advances lead us to reconsider the treatment strategy in AKU patients. Besides the supporting therapies (pain killers, anti-inflammatory drugs, physiotherapy, joints replacements and others), specific therapies have been considered (anti-oxidant, low protein diet, nitisinone), but clinical studies have failed to prove efficiency on the rheumatological lesions of the disease. Here we propose a treatment strategy for children and adults with AKU, based on a review of the latest findings on AKU and lessons from other aminoacipathies, especially tyrosinemias. © 2015, SSIEM. Source

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