Richard Imrich, Andrea Zatkova, Olga Lukacova, Jana Sedlakova, Elizabeth Zanova, Miroslav Vlcek, Adela Penesova, Zofia Radikova, Andrea Havranova, Lakshminarayan Ranganath
Alkaptonuria (AKU, OMIM, No. 203500) is a rare, slow-progressing, irreversible, multisystemic disease resulting from a deficiency of the homogentisate 1,2-dioxygenase enzyme, which leads to the accumulation of homogentisic acid (HGA) and subsequent deposition as pigment in connective tissues called ochronosis. As a result, severe arthropathy of large joints and spondyloarthropathy with frequent fractures, ligament ruptures, and osteoporosis develops in AKU patients. Since 2020, the first-time treatment with nitisinone has become available in the European Union...
January 1, 2023: Endocrine Regulations