Biomarkers in Inborn Errors of Metabolism : Clinical Aspects and Laboratory Determination 1 edition (Clinical Aspects and Laboratory Determination of Biomarkers Series) (PDF)

Biomarkers in Inborn Errors of Metabolism : Clinical Aspects and Laboratory Determination 1 edition (Clinical Aspects and Laboratory Determination of Biomarkers Series) (PDF)

written by Uttam Garg and Laurie D. Smith

The emerging fact that laboratory testing and biomarkers are a crucial component in the diagnosis and treatment of inherited metabolic illnesses informs the structure of the book Biomarkers of Inborn Errors in Metabolism : Clinical Aspects and Laboratory Determination . The book discusses both biomarkers that are already in use and those that are being developed . The book also discusses biomarkers used in the prognosis and therapy of hereditary metabolic disorders because biomarkers used in the initial diagnosis of disease may differ from the follow-up markers .

An increasing number of laboratories are engaged in follow-up confirmatory testing as a result of the expansion of new-born screening for inborn metabolic disorders . The book offers recommendations for choosing lab tests and deciphering the results in patients with suspected hereditary metabolic illnesses . Through its illustrative material on metabolic pathways , genetics and etiology , therapy and prognosis of hereditary metabolic illnesses , as well as crucial knowledge on clinical presentation , the book offers thorough assistance on patient diagnosis and follow-up . Each chapter follows a consistent , simple format that includes a brief description of the disorder and its pathway , a description of the recommended course of action , biomarkers for diagnosis , biomarkers followed for treatment effectiveness , biomarkers followed for disease progression , confounding conditions that can either affect biomarker expression or mimic IEMs and other biomarkers that are less well-established but may be useful in the future.

explains in detail how to choose tests and biomarkers for newborn screening and how to monitor the results of newborn screening divides biomarkers into prognostic , illness follow-up and diagnostic categories . discusses confounding variables that can change biomarkers even in the absence of inherited metabolic flaws provides advice on how to differentiate between inherited metabolic abnormalities and acquired causes.

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