Orphanet Journal of Rare Diseases | Saudi Consensus Recommendations: Nutritional Management of Inborn Errors of Metabolism in Neonates and Infants

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This article established 105 nutritional management recommendations through the Delphi method, providing a comprehensive consensus on nutritional interventions for seven common inborn errors of metabolism (PA, MMA, GA1, PKU, MSUD, VLCAD, HCU), offering critical guidance for clinical practice in the Middle East and globally.

 

Literature Overview
This article, titled 'Nutritional management of metabolic disorders in neonates and infants in Saudi Arabia: consensus recommendations', published in Orphanet Journal of Rare Diseases, reviews and summarizes nutritional management recommendations for seven inborn errors of metabolism (PA, MMA, GA1, PKU, MSUD, VLCAD, HCU) in the context of the Kingdom of Saudi Arabia (KSA), focusing on neonatal and infant stages.

Background Knowledge
Inborn errors of metabolism (IEM) are genetic disorders caused by defects in metabolic enzymes, transporters, or intermediates, which can lead to intellectual disability, cognitive impairment, or even death if left untreated. Nutritional management is critical in IEM treatment to support growth, control toxic metabolite accumulation, prevent nutritional deficiencies, and avoid catabolism. The incidence of IEM in Saudi Arabia is higher than the global average, highlighting the importance of localized consensus guidelines. This study used the Delphi method to establish expert consensus on nutritional intervention strategies from neonatal to infant stages, including routine nutritional management, acute phase intervention, weaning guidance, and emergency response. It also discusses challenges in nutritional management, such as dietary compliance, nutrient balance, and psychosocial impact. The study provides a systematic guide for clinical nutrition management in Saudi and Middle Eastern IEM patients and lays the foundation for future dietary intervention research.

 

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Research Methods and Experiments
The study employed the Delphi method to generate consensus. A panel of six metabolic nutrition experts from five Saudi hospitals developed the recommendations through two in-person and one virtual meeting, with anonymous voting used to determine agreement (≥75% agreement considered consensus). A comprehensive literature review was also conducted, referencing international guidelines such as GMDI, BIMDG, E-HOD, and SERC, to assess their applicability in Saudi clinical settings.

Key Findings and Recommendations

• Consensus was achieved across all seven IEM conditions, resulting in 105 nutritional recommendations.
• Early diagnosis and intervention are critical to preventing long-term complications and mortality.
• Nutritional management should follow a multidisciplinary approach, involving physicians, dietitians, nursing, and psychological support teams.
• Exclusive breastfeeding is recommended as a protein source but must be closely monitored.
• Protein intake should be age-adjusted, with recommended intake of 0.57–1.52 g/kg/day for infants.
• In acute episodes, natural protein intake should be restricted for no more than 48 hours, followed by gradual reintroduction.
• Complementary feeding should begin at 6 months, with low-protein fruits and vegetables such as apples, grapes, and lettuce.
• Emergency nutrition management includes intravenous administration of high-energy, high-carbohydrate, and lipid-containing solutions to prevent catabolism.
• On days with illness, detailed emergency dietary plans and written instructions should be provided.
• Saudi experts recommend monthly follow-ups for the first 6 months and every 3 months after 1 year to assess nutritional and growth status.
• Supplementation of multivitamins, minerals, and essential fatty acids is advised to compensate for dietary restrictions.
• Challenges in nutritional management include lack of unified guidelines, poor patient compliance, and resource limitations.

Significance and Future Directions
The consensus provides standardized nutritional recommendations for IEM patients in Saudi Arabia and the Middle East, improving clinical consistency. Future studies should evaluate the real-world effectiveness of these dietary strategies in the Saudi population and explore the long-term impacts of nutritional interventions on growth, neurocognitive development, and metabolic stability. In addition, localized nutritional formulas and food availability should be promoted to enhance compliance and treatment outcomes.

 

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Conclusion
Based on Delphi expert consensus, this study provides systematic nutritional management recommendations for neonates and infants with inborn errors of metabolism in Saudi Arabia. A total of 105 consensus-based recommendations were established for seven IEMs: PA, MMA, GA1, PKU, MSUD, VLCAD, and HCU. The consensus emphasizes the importance of early diagnosis and nutritional intervention, recommending breastfeeding combined with specialized formulas, low-protein fruits and vegetables, and regular follow-ups. It also highlights real-world challenges in dietary management, such as patient compliance, nutrient balance, and psychosocial impacts. The recommendations serve as practical guidance for dietitians, families, and healthcare teams, and provide a foundation for future nutritional intervention studies in the region. With the expansion of newborn screening and standardized nutritional management, improved growth and neurodevelopmental outcomes are anticipated for children with IEMs.

 

Bedour Handoom, Eman Alohali, Hifa Elsagher, Naif Alhamed, and Wafaa Alabyad. Nutritional management of metabolic disorders in neonates and infants in Saudi Arabia: consensus recommendations. Orphanet Journal of Rare Diseases.