Early identification of LPIN1 variant in a child with severe myoglobinuria and a history of sibling deaths.

This review systematically mapped a wide range of international literature using a recognised scoping review methodology, including a comprehensive search strategy across three major databases and dual-reviewer screening for study selection. A key strength is the application of the Quintuple Aim framework, which provided a structured and multifaceted approach to analyse referral gaps and solutions across five critical domains of healthcare, leading to the identification of significant evidence gaps, particularly for provider well-being and health equity. As is characteristic of scoping reviews, this study did not undertake a formal quality appraisal or risk-of-bias assessment of the included articles; therefore, it does not assess the effectiveness of the identified referral solutions.