Nutrients· 2026Q1

Dried Blood Spot-Based Monitoring of Dietary Treatment in Children, Adolescents, and Young Adults with Inherited Disorders of Amino Acid Metabolism: A Four-Year Pilot Study

Agnieszka Kowalik, Ewa Głąb-Jabłońska, Joanna Taybert, Marta Nogalska et al.

0citations
Q1SCImago
2026year

Short summary

Home-collected dried blood spot (DBS) samples, analyzed via mass spectrometry, are a feasible method for monitoring dietary treatment in children and young adults with specific inherited amino acid metabolism disorders, showing utility particularly in maple syrup urine disease and glutaric aciduria type 1.

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Clinical BiochemistryBiochemistry, Genetics and Molecular Biology