Phenylketonuria (PKU) is a condition in which children lack the gene necessary to create the enzyme needed to break down an amino acid called phenylalanine. The buildup of phenylalanine to dangerous levels leads to severe physical and mental health problems such as brain damage. PKU can be corrected simply by monitoring and administration of a specific diet.
- Professionals:
The current situation in Morocco regarding diagnosis and treatment of children with PKU is dire. Both knowledge and resources are lacking. Children are not automatically screened at birth for PKU. Most doctors are not trained to recognize symptoms, diagnose and properly treat PKU. Children will needlessly suffer from the condition until they are diagnosed. However, even upon diagnosis, the milk formula necessary to balance the blood level of the enzyme can only be accessed by military families at one military hospital.
This formula needs to be taken daily and yet is inaccessible to most Moroccans. In addition, the weekly blood tests required for proper monitoring are only available at a limited number of laboratories in only a few cities.
- Webinars recording:
- Medical management
https://www.mayoclinic.org/diseases-conditions/phenylketonuria/diagnosis-treatment/drc-20376308
https://www.has-sante.fr/upload/docs/application/pdf/2018-06/phenylcetonurie_-_pnds.pdf
https://www.orpha.net/consor/cgi-bin/index.php