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, sa.1, ss.7-11, 2018 (ESCI) identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 5 Sayı: 1
  • Basım Tarihi: 2018
  • Doi Numarası: 10.4274/jpr.20982
  • Dergi Adı: JOURNAL OF PEDIATRIC RESEARCH
  • Derginin Tarandığı İndeksler: Emerging Sources Citation Index (ESCI), TR DİZİN (ULAKBİM)
  • Sayfa Sayıları: ss.7-11
  • Anahtar Kelimeler: Alkaptonuria, ochronosis, homogentisic acid, homogentisate 1,2 dioxygenate, arthritis, MUTATIONS, SLOVAKIA, OCHRONOSIS
  • Çukurova Üniversitesi Adresli: Evet

Özet

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.