Verduci Elvira, Tosi Martina, Dionisi Vici Carlo, Spada Marco
Department of Health Sciences, University of Milan, 20142 Milan, Italy.
Metabolic Diseases Unit, Department of Pediatrics, Vittore Buzzi Children's Hospital, 20154 Milan, Italy.
Genes (Basel). 2025 Apr 27;16(5):502. doi: 10.3390/genes16050502.
BACKGROUND/OBJECTIVES: Inherited metabolic disorders (IMDs) are a group of genetic conditions affecting metabolic pathways. The treatment of some IMDs requires the dietary restriction of specific amino acids. IMDs may also necessitate the supplementation of one or more amino acids due to factors such as reduced dietary intake, impaired synthesis, defective transport or absorption, or increased utilization. This literature review aims to evaluate the most recent evidence regarding amino acid supplementation in IMDs, considering not only the prevention of amino acid deficiency and toxic accumulation but also the competition with other toxic metabolites.
A systematic search strategy was developed and applied to PubMed/Medline and Scopus databases to identify relevant studies. Amino acids were categorized into six groups: branched-chain amino acids, aromatic amino acids, sulfur amino acids, urea cycle amino acids, other essential amino acids, and other non-essential amino acids.
A total of 24 rare IMDs were evaluated. A final number of 99 selected articles were assessed based on the Oxford Centre for Evidence-Based Medicine 2011 Levels of Evidence. Although this work represents a preliminary non-systematic review, it highlights the need for further studies and data collection.
Future research must establish the plasma amino acid levels that indicate the need for supplementation, specify the appropriate dosages (g/day or mg/kg/day), determine the optimal treatment duration, and, crucially, define the target plasma ranges to be maintained for effective management of IMDs.
背景/目的：遗传性代谢疾病（IMDs）是一组影响代谢途径的遗传病症。某些IMDs的治疗需要对特定氨基酸进行饮食限制。由于饮食摄入减少、合成受损、转运或吸收缺陷或利用增加等因素，IMDs可能还需要补充一种或多种氨基酸。本综述旨在评估关于IMDs中氨基酸补充的最新证据，不仅考虑预防氨基酸缺乏和毒性积累，还要考虑与其他有毒代谢物的竞争。
制定了系统的检索策略，并应用于PubMed/Medline和Scopus数据库以识别相关研究。氨基酸被分为六组：支链氨基酸、芳香族氨基酸、含硫氨基酸、尿素循环氨基酸、其他必需氨基酸和其他非必需氨基酸。
共评估了24种罕见的IMDs。根据牛津循证医学中心2011年的证据水平，最终评估了99篇选定的文章。尽管这项工作是初步的非系统综述，但它强调了进一步研究和数据收集的必要性。
未来的研究必须确定表明需要补充的血浆氨基酸水平，明确适当的剂量（克/天或毫克/千克/天），确定最佳治疗持续时间，并且至关重要的是，确定为有效管理IMDs而需维持的目标血浆范围。
