International Research Journal of Public and Environmental Health Vol.4 (3),pp. 48-54, April 2017 Available online at https://www.journalissues.org/IRJPEH/ https://doi.org/10.15739/irjpeh.17.007 Copyright © 2017 Author(s) retain the copyright of this article ISSN 2360-8803 Original Research Article Daily practices of phenylketonuria in various centres in Turkey “a retrospective, cross-sectional study” Received 13 January, 2017 Revised 15 February, 2017 Accepted 20 February, 2017 Published 14 April, 2017 Tugba Kucukkasap Comert* 1 , and Gulden Koksal 2 1 Yuksek Ihtisas University, Nutrition and Dietetics Department,Turkey. 2 Hasan Kalyoncu University, Nutrition and Dietetics Department, Turkey. *Corresponding Author Email: tugbacomert@yiu.edu.tr Abbrevations PKU: phenlketonuria HPA: hyperphenylalaninemia Phe: phenylalanine There is an large diversity in treatment aims and procedures in phenylketonuria (PKU) through the pediatric nutrition and metabolic disease clinics in different regions of Turkey. A survey among professionals was done to determine goals and daily practice.A questionnaire was sent to professionals of the pediatric nutrition and metabolic disease clinics of different regions of Turkey, addressing diagnostic and treatment procedures, numbers of patients necessary for a PKU centre, quidelines followed, numbers of patients treated and professionals involved in care, target phenylalanine (Phe) concentrations, amount of protein prescribed, frequency of monitoring and clinical visits, need for follow-up of various clinical and biochemical data. The dates of diagnosis, blood Phe levels (last 2-3 years), last anthropometric measurements (body weight, height) were ascertained from medical dossiers and records.Eight clinics of six countries answered the questions of daily practices in PKU. Among the various clinics, differences in daily practice were observed with regards to blood Phe values (mg/dL) accepted for initiation of medical nutrition treatment, target blood Phe concentrations (mg/dL), the recommended protein intake and the dosages of protein substitutes, allocating daily Phe allowance, definition of foods that could be eaten without restriction (“free foods”). Responses show that PKU care varies widely between centres, so it was confirmed that it is necessary to develop a guideline specific for Turkey that covers all practices beginning from the screening of newborns to follow-up. Key words: Phenylketonuria, quidelines, daily practice, phenylalanine INTRODUCTİON PKU is an inherited metabolic disorder caused by deficiency in Phe hydroxylase enzyme (PAH), which converts Phe to tyrosine. If ileft untreated from birth, this results in rapid accumulation of toxic concentrations of Phe in the blood, leading to severe brain damage. The vast majority of cases are now identified via neonatal screening programmes, allowing timely intervention to avoid severe consequences. A low-Phe diet currently forms the principal strategy to limit Phe accumulation in the blood and, therefore, in tissues such as the brain. The low-Phe diet restricts the intake of high-protein foods, and the remaining nutritional requirements must be obtained from Phe-free amino acid supplements (protein substitute) and special or natural foods that are low in Phe. The treatment goal with dietary restriction is to maintain blood Phe concentrations within defined target limits which may vary from centres (2–6 mg/dL). Newborns born in maternity hospitals in the metropolitan areas of 27 cities in Turkey have been screened for PKU since 1986. On the other hand, the