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<p>Inborn errors of metabolism (IEM) are inherited disorders affecting metabolism which can result in intellectual disability, cognitive impairment or death if left untreated. Nutritional management plays a major role in ensuring adequate growth, nutritional status and development, reducing levels of toxic metabolites, preventing deficiencies and avoiding catabolism in infants with IEM. The aim of this consensus is to provide recommendations for nutritional management of metabolic diseases in neonates and infants in Saudi Arabia, where a high frequency of IEM has been reported.</p><p>Consensus generation was performed using the Delphi method. Six metabolic dietitians from five hospitals across KSA formed the expert panel. Two face-to face meetings and one virtual meeting were conducted to generate consensus statements. Voting was conducted anonymously on SurveyMonkey to determine the level of agreement with each recommendation.</p><p>The expert panel reached consensus on 105 recommendations relating to the nutritional management of metabolic disorders, focusing on PA, MMA, GA1, PKU, MSUD, VLCAD, and HCU.</p><p>These recommendations will facilitate more consistent management of metabolic patients across Saudi Arabia and strive to highlight ongoing challenges faced by dietitians, patients, and caregivers. Future work should focus on outcomes associated with dietary management strategies in Saudi Arabia.</p>

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Nutritional management of metabolic disorders in neonates and infants in Saudi Arabia: consensus recommendations

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年11月17日

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  • Bedour Handoom,
  • Eman Alohali,
  • Hifa Elsagher,
  • Lina Alohali,
  • Naif Alhamed,
  • Wafaa Alabyad

摘要

Inborn errors of metabolism (IEM) are inherited disorders affecting metabolism which can result in intellectual disability, cognitive impairment or death if left untreated. Nutritional management plays a major role in ensuring adequate growth, nutritional status and development, reducing levels of toxic metabolites, preventing deficiencies and avoiding catabolism in infants with IEM. The aim of this consensus is to provide recommendations for nutritional management of metabolic diseases in neonates and infants in Saudi Arabia, where a high frequency of IEM has been reported.

Consensus generation was performed using the Delphi method. Six metabolic dietitians from five hospitals across KSA formed the expert panel. Two face-to face meetings and one virtual meeting were conducted to generate consensus statements. Voting was conducted anonymously on SurveyMonkey to determine the level of agreement with each recommendation.

The expert panel reached consensus on 105 recommendations relating to the nutritional management of metabolic disorders, focusing on PA, MMA, GA1, PKU, MSUD, VLCAD, and HCU.

These recommendations will facilitate more consistent management of metabolic patients across Saudi Arabia and strive to highlight ongoing challenges faced by dietitians, patients, and caregivers. Future work should focus on outcomes associated with dietary management strategies in Saudi Arabia.