Demographic, Phenotypic and Genotypic Features of Alkaptonuria Patients: A Single Centre Experience
JOURNAL OF PEDIATRIC RESEARCH, cilt.5, sa.1, ss.7-11, 2018 (ESCI, TRDizin)
- 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.