Demographic, Phenotypic and Genotypic Features of Alkaptonuria Patients: A Single Centre Experience

• Main Authors: Sebile Kılavuz (Author), Fatma Derya Bulut (Author), Deniz Kör (Author), Berna Şeker Yılmaz (Author), Sibel Başaran (Author), Tunay Sarpel (Author), Neslihan Önenli Mungan (Author)
• Format: Bog
• Udgivet: Galenos Yayinevi, 2018-03-01T00:00:00Z.
• Fag: article
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Aim:Alkaptonuria (AKU) is an autosomal recessively inherited disease caused by a deficiency of homogentisate 1,2-dioxygenase. This enzyme converts homogentisic acid (HGA) into maleylacetoacetic acid in the tyrosine degradation pathway. The presence of HGA in urine, ochronosis (bluish-black pigmentat...