Inborn Errors of MetabolismFrom Neonatal Screening to Metabolic Pathways

Inborn Errors of MetabolismFrom Neonatal Screening to Metabolic Pathways

Brendan Lee and Fernando Scaglia

Print publication date: Oct 2014

ISBN: 9780199797585

Publisher: Oxford University Press

Abstract

Works on inborn errors of metabolism (IEMs) have traditionally focused on classical biochemistry, clinical presentation, and standard treatment approaches. Inborn Errors of Metabolism is an expansion on this model, one that establishes an innovative pathway approach and provides a new authority on this family of disease. Alongside the standard cadre of molecular and clinical underpinnings, this title includes coverage of new-born screenings and an overarching treatment of IEMs as complex diseases — how basic alterations can lead to complex secondary and tertiary effects in metabolism that contribute to increasingly recognized natural histories of disease.