Biomarkers in Inborn Errors of Metabolism

Biomarkers of Inborn Errors in Metabolism is structured by the new reality that laboratory testing and biomarkers are an integral part in the diagnosis and treatment of inherited metabolic diseases. The book covers currently used biomarkers as well as markers that are in development and, since the biomarkers used in the initial diagnosis of disease may be different than the follow-up markers, it also covers biomarkers used in both the prognosis and treatment of inherited metabolic disorders. With the introduction of expanded newborn screening for inborn metabolic diseases, increasing numbers of laboratories are involved in the follow-up confirmatory laboratory testing. The book provides guidance on laboratory test selection and results interpretation in patients with suspected inherited metabolic diseases. Illustrative metabolic pathways and the basic information on clinical presentation, genetics and pathogenesis, and treatment and prognosis of inherited metabolic diseases along with biomarkers will provide comprehensive information and guidance on patient diagnosis and follow-up. Each chapter is organized with a uniform, easy-to-follow format: Brief description of the disorder and pathway; Brief description of treatment; Biomarkers for diagnosis; Biomarkers followed for treatment efficacy; Biomarkers followed for disease progression; Confounding conditions that can either: Affect biomarker expression or Mimic IEMs; Other Biomarkers: Less established, Future. Provides comprehensive information on the tests/biomarkers selection in newborn screening and follow-up of newborn screensCategorizes biomarkers into diagnostic markers, disease follow-up markers, and prognostic biomarkersCovers confounding factors that can alter biomarkers in the absence of inborn errors of metabolismOffers guidance on how to distinguish acquired causes from inborn errors of metabolism