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

KILAVUZ S., BULUT F. D. , KOR D. , YILMAZ B. S. , BAŞARAN S. , SARPEL T. , ...Daha Fazla

JOURNAL OF PEDIATRIC RESEARCH, cilt.5, ss.7-11, 2018 (ESCI İndekslerine Giren Dergi) identifier

  • Cilt numarası: 5 Konu: 1
  • Basım Tarihi: 2018
  • Doi Numarası: 10.4274/jpr.20982
  • Sayfa Sayıları: ss.7-11


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 pigmentation in connective tissues) and arthritis of the spine and the other large joints are the three major features of AKU. Nitisinone and a tyrosine-restricted diet are the treatment options. in this study, we evaluated the demographic and clinical characteristics and also the mutations of our AKU patient.