A Call to Action: A Roadmap Towards Optimized Care of Phenylketonuria in Morocco

Phenylketonuria (PKU) is a treatable inherited disorder causing severe, irreversible neurocognitive impairment if not detected and treated early. In Morocco, PKU care is limited by the absence of universal newborn screening (NBS), inadequate diagnostic capacity, fragmented referral pathways, and unequal access to medical nutrition and specialist follow-up. This article identifies barriers to timely diagnosis and long-term management and proposes a practical national roadmap through qualitative expert review combined with published evidence. Evidence on PKU epidemiology, diagnosis, treatment access, care pathways, and policy frameworks in Morocco and comparator countries across the Middle East and North Africa was synthesized using descriptive gap analysis and expert consensus. PKU care is constrained by limited tandem mass spectrometry capacity, shortages of metabolic specialists and dietitians, the absence of a national registry, inconsistent availability of phenylalanine-free medical foods, and limited access to sapropterin. A 2024 Casablanca pilot detected one PKU case among 5429 screened newborns. A 2016–2021 selective screening study of 1178 symptomatic children identified 137 inborn errors of metabolism, with amino acid disorders comprising 88.3%, predominantly PKU. Morocco should implement a phased, publicly funded NBS; establish regional metabolic centers; develop reimbursement strategies for medical nutrition; and prioritize registries, implementation research, and economic evaluations.