Metabolites as Biomarkers for Inherited Disorders

Dear Colleagues,

While collectively, inherited disorders are common, as individual conditions they can be more rare and, therefore, prove problematic for accurate and timely diagnosis. As diagnostic laboratories expand genetic testing to include screening for these disorders, there is a rise in the detection of genetic variants where the pathogenic phenotype is unclear. These variants of uncertain significance require orthogonal validation via thorough biochemical assessment to ensure an accurate diagnosis. Metabolites serve as objective biomarkers of disease burden and, therefore, play a vital role not only in the diagnosis of inherited disorders but also in monitoring disease progression and response to therapy.

The aim of this Special Issue is to provide the latest research on the utility of metabolites as biomarkers of inherited disorders. Topics covered may include but are not limited to, the validation of new biomarkers, correlation of metabolites with a phenotype and/or genotype, and their use in the biochemical monitoring of therapy.

Dr. Jennifer Saville
Guest Editor

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