Evaluation of patients diagnosed with phenylketonuria and biotinidase deficiency by the newborn screening program: a ten-year retrospective study
Yükleniyor...
Dosyalar
Tarih
2022
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
The Turkish Journal of Pediatrics
Erişim Hakkı
info:eu-repo/semantics/openAccess
Özet
Background. Phenylketonuria (PKU) and biotinidase deficiency (BD) are autosomal recessive diseases. If they
are not identified and treated early, severe intellectual disability and developmental delay occur. This study
was conducted to calculate the ten-year incidence of PKU and BD in the Diyarbakır province of Turkey.
Methods. This cross-sectional study included patients born between 2011-2020 and diagnosed with PKU and
BD. Patients with a clear diagnosis had their records evaluated retrospectively.
Results. Between 2011 and 2020, blood was taken from 417,525 newborns’ heels in Diyarbakir province. As a
result of further diagnostic testing, 53 PKU (Incidence: 1:7878) and 177 BD (Incidence: 1:2359) were detected. Of
the patients with BD, 56% had profound BD and 44% had partial BD. The records of a total of 269 patients (PKU:
25; BD: 123; Hyperphenylalaninemia: 121) were examined. Parents of 65% (n=15) of the patients diagnosed with
PKU and 46.6% (n=55) of the patients diagnosed with BD were consanguineous.
Conclusions. The incidence of both PKU and BD was found to be high in our region. The high number of
consanguineous marriages was regarded as the most important explanation for the high frequency of these
illnesses.
Açıklama
Anahtar Kelimeler
biotinidase deficiency, incidence, newborn screening, phenylketonuria.
Kaynak
The Turkish Journal of Pediatrics
WoS Q Değeri
Q4
Scopus Q Değeri
N/A
Cilt
64
Sayı
6
Künye
Toktaş, İ., Sarıbaş, S., Canpolat, S., Erdem, Ö., & Özbek, M. N. (2022). Evaluation of patients diagnosed with phenylketonuria and biotinidase deficiency by the newborn screening program: a ten-year retrospective study. The Turkish Journal of Pediatrics, 64(6), 985-992.
