title: Alkaptonuria--first inborn error of metabolism known for a century and new treatment option--preliminary report.
abstract: Alkaptonuria is a rare inborn error of metabolism, identified over a century ago. But its basic pathomechanism (i.e. ochronosis) is still not completely explained. Though clinical onset of osteoarthropathy and complications from other organs (including: heart and blood vessels, skin, eyes, kidneys) occurs at adult age, the symptoms are progressive, cause severe pains and significantly limit everyday life of the patients. Until now no effective therapeutic methods have been known in alkaptonuria. Recently, thanks to an initiative of the international patient organization for alkaptonuria, a hope for a potential treatment availability, appears. So, alkaptonuria is an example of a role of multidysciplinary care, cooperation and ongoing progress in the area of rare diseases.
authors.affiliation: Screening Department, Institute of Mother and Child, Kasprzaka 17A, 01-211 Warsaw, tel. (+48 22) 32-77-375, fax: (+48 22) 32-77-375, e-mail: jolanta.cegielska@imid.med.pl.
authors.forename: Jolanta
authors.initials: J
authors.lastname: Sykut-Cegielska
mesh_terms: D000474:Alkaptonuria / Q000150:complications* / Q000378:metabolism; D001024:Aortic Valve Stenosis / Q000209:etiology* / Q000601:surgery; D019918:Heart Valve Prosthesis Implantation; D006801:Humans; D009794:Ochronosis / Q000209:etiology* / Q000378:metabolism / Q000601:surgery