Inherited metabolic diseases disrupt specific biochemical pathways; however, molecular and enzymatic testing alone may not fully reflect pathway function in vivo. Interpretation can be complicated by pseudo-deficiency alleles, variants of uncertain significance, tissue-specific enzyme expression, and discrepancies between enzyme activity measured in vitro and actual metabolic function in vivo. Biomarkers therefore provide an essential functional dimension to the diagnostic evaluation of these disorders.

The accumulation of substrates or pathway-derived metabolites may reveal the biochemical consequences of a metabolic defect. Examples include glycosaminoglycans in mucopolysaccharidoses, very-long-chain fatty acids in peroxisomal disorders, lysosphingolipids in sphingolipidoses, and succinylacetone in tyrosinemia type I. When sufficiently sensitive and specific, such biomarkers can support newborn or selective screening, facilitate diagnostic confirmation, and—in certain X-linked disorders—contribute to the evaluation of potentially affected female relatives.

Biomarker assays are often rapid and scalable, but their clinical utility depends on analytical validity, appropriate pre-analytical conditions, age-specific reference intervals, and careful interpretation in the context of the patient’s phenotype. When integrated with enzymatic and genomic analyses, biomarkers may also help quantify disease burden, characterize its natural history, monitor progression, and provide objective measures of therapeutic response.

This Special Issue welcomes original research, methodological studies, clinical investigations and authoritative reviews that advance the discovery, validation and implementation of biomarkers in inherited metabolic diseases. It aims to connect biochemical pathway analysis with enzymology, genomics and clinical phenotyping, while addressing the analytical and interpretive challenges that determine whether a biomarker can move from research into routine care. Potential areas of interest may include, but are not limited to:

● Discovery and validation of diagnostic, prognostic, predictive and pharmacodynamic biomarkers
● Targeted metabolomics, lipidomics, proteomics and multi-omics approaches
● Biomarkers for newborn screening, diagnosis, carrier assessment and genotype–phenotype correlation
● Monitoring of disease burden, natural history and response to established or emerging therapies

Authors are welcome to submit articles presenting original studies or literature review work. Please consult the journal's information regarding Article Types, Author Guidelines, and Publishing Fees, or direct any questions to the Editorial Office: abp@frontierspartnerships.org.

Even though abstract submission is not mandatory, we encourage all interested researchers to submit a “manuscript summary” before submitting their article. Manuscript summaries do not have to coincide with the final abstract of the article.

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Acta Biochimica Polonica