Decoding rare inherited metabolic disorders: Advancing precision in screening and diagnosis

Document Type

Article

Department

Pathology and Laboratory Medicine

Abstract

Inherited Metabolic Disorders (IMDs) constitute a varied group of genetic disorders marked by disruptions in essential molecule metabolism, resulting in diverse clinical manifestations. Early diagnosis and prompt intervention are critical for optimal disease management and the prevention of long-term complications. Metabolomics, an impactful analytical approach, has surfaced as a valuable tool in the screening, diagnosis, and monitoring of IMDs. This review offers an insight into the role of metabolomics in IMD screening, emphasizing its applications, challenges, and future potential. Metabolomics interrogates the complete spectrum of small-molecule metabolites in biological samples, allowing precise detection of metabolic perturbations that serve as signatures of specific disease states. Despite challenges in data interpretation and standardization, the ongoing evolution of technology positions metabolomics as a promising avenue for early detection and personalized management of IMDs, contributing to advancements in both research and clinical practice.

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Volume, issue and pagination are not provided by author/publisher.

AKU Student

no

Publication (Name of Journal)

Orphanet Journal of Rare Diseases

DOI

10.1186/s13023-026-04208-6

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