Home
World Journal of Advanced Research and Reviews
International Journal with High Impact Factor for fast publication of Research and Review articles

Main navigation

  • Home
    • Journal Information
    • Editorial Board Members
    • Reviewer Panel
    • Abstracting and Indexing
    • Journal Policies
    • Our CrossMark Policy
    • Publication Ethics
    • Issue in Progress
    • Current Issue
    • Past Issues
    • Instructions for Authors
    • Article processing fee
    • Track Manuscript Status
    • Get Publication Certificate
    • Join Editorial Board
    • Join Reviewer Panel
  • Contact us
  • Downloads

eISSN: 2581-9615 || CODEN: WJARAI || Impact Factor 8.2 ||  CrossRef DOI

Research and review articles are invited for publication in March 2026 (Volume 29, Issue 3) Submit manuscript

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

Breadcrumb

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

F. ETIENE IRINEU 1, *, H. LACHRAF 1, H. RHOUDA 1, G. ZOUIRI 1, S. MOUSSAOUI 1, H. LAJJI 1, H. TALBAOUI 2, S. DAHRI 2, L. CHABRAOUI 2 and Y. KRIOUILE 1

1 Paediatric Neurology and Neurometabolic Disease Unit, Paediatric II Department, Faculty of Medicine and harmacy of Rabat, Rabat Children's Hospital, Ibn Sina University Hospital, Mohamed V University, Rabat, Morocco.
2 Department of Metabolic Biochemistry and Disease. CHU Ibn Sina, Rabat, Morocco.
 
Research Article
World Journal of Advanced Research and Reviews, 2024, 22(01), 201-205
Article DOI: 10.30574/wjarr.2024.22.1.1023
DOI url: https://doi.org/10.30574/wjarr.2024.22.1.1023
 
Received on 11 February 2024; revised on 01 April 2024; accepted on 03 April 2024
 
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.
 
Phenylketonuria; Phenylalanine; Phenylalanine Hydroxylase; Tetrahydrobiopterin
 
https://wjarr.com/sites/default/files/fulltext_pdf/WJARR-2024-1023.pdf

Preview Article PDF

F. ETIENE IRINEU, H. LACHRAF, H. RHOUDA, G. ZOUIRI, S. MOUSSAOUI, H. LAJJI, H. TALBAOUI, S. DAHRI, L. CHABRAOUI and Y. KRIOUILE. Pediatrics 2 experience, Neuropediatrics and neurometabolic diseases unit on phenylcetonuria: About 36 patients. World Journal of Advanced Research and Reviews, 2024, 22(1), 201-205. Article DOI: https://doi.org/10.30574/wjarr.2024.22.1.1023

Copyright © Author(s). All rights reserved. This article is published under the terms of the Creative Commons Attribution 4.0 International License (CC BY 4.0), which permits use, sharing, adaptation, distribution, and reproduction in any medium or format, as long as appropriate credit is given to the original author(s) and source, a link to the license is provided, and any changes made are indicated.

All statements, opinions, and data contained in this publication are solely those of the individual author(s) and contributor(s). The journal, editors, reviewers, and publisher disclaim any responsibility or liability for the content, including accuracy, completeness, or any consequences arising from its use.

Get Certificates

Get Publication Certificate

Download LoA

Check Corssref DOI details

Issue details

Issue Cover Page

Editorial Board

Table of content

Copyright © 2026 World Journal of Advanced Research and Reviews - All rights reserved

Developed & Designed by VS Infosolution