Demographic Features of Phenylketonuria (PKU) Patients, Sharkia Governorate, Egypt

Abstract

Background: Phenylketonuria (PKU) is an autosomal recessive disease. Early diagnosis could act as an effectual public health intervention in order to prevent neurological impairments. Aim: Demonstration of epidemiological data of early treated PKU children in Sharkia Governorate and evaluation of their nutritional status and anthropometric measures in relation to metabolic control.Methods: This is a cross sectional study that was conducted on 64 early diagnosed and treated PKU patients. They were recruited from the clinical genetics and metabolic disorders outpatient clinic in Zagazig University Children Hospital. The patients were divided into two groups: group 1:included 30 early treated and metabolically controlled PKU and group 2: included 34 early treated PKU patients with poor metabolic control.Results: There is statistically significant relation between metabolic control and gender (Females showed higher prevalence among patients with good control). There is statistically significant relation between control and alkaline phosphatase, mean PHE and PHE/TYR (alkaline phosphatase, mean PHE and PHE/TYR were significantly lower in patients with good control).There is high percentage of consanguinity among Egyptian PKU patients. Conclusion: The number of early diagnosed and treated PKU patients is increasing in Egypt since the application of NBS in 2015 allowing further studies on early treated Egyptian PKU patients including their metabolic control, psychological assessment and nutritional status.