Daily practices of phenylketonuria in various centres in Turkey “a retrospective, cross-sectional study”

Abstract

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.

Abbrevations

PKU: phenlketonuria
HPA: hyperphenylalaninemia
Phe: phenylalanine

Keywords: Phenylketonuria, quidelines, daily practice, phenylalanine