Pediatrics 2 experience, Neuropediatrics and neurometabolic diseases unit on phenylcetonuria: About 36 patients

Abstract

Phenylketonuria (PKU) is a hereditary metabolic disease of phenylalanine metabolism, linked to a deficiency of phenylalanine hydroxylase or its cofactor, an enzyme allowing the transformation of phenylalanine into tyrosine, resulting in an increase in blood and brain concentration. of PHA, comprising an intellectual disability with cognitive and behavioral disorders if it is not treated. We report 36 cases of phenylketonuria followed in the pediatric department 2, born to consanguineous parents in 58.4% of cases and non-consanguineous in 41.6%, the male sex represents the majority with 22 cases and female with 14 cases, The age of diagnosis minimum 3 days of life and maximum 16 years and the current age of patients minimum 4 years and maximum 37 years with comorbidities like epilepsy, motor disorders, behavioral disorders, Autism Spectrum Disorder and mental retardation and about 70% have a regular monitoring. Through this series we will support the epidemiological, clinical, paraclinical and therapeutic particularities of patients with phenylketonuria. Early diagnosis of the disease makes it possible to initiate treatment early, which is mainly based on a diet low in phenylalanine for life in order to improve the progressive prognosis and avoid irreversible after-effects.