Inborn Errors of Metabolism: From Neonatal Screening to Metabolic PathwaysBrendan H. Lee, Fernando Scaglia Texts 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 volume includes coverage of newborn 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. |
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abnormal acidemia aciduria activity acyl-CoA addition amino acid analysis assay associated biochemical blood brain carnitine caused cells chaperone cholesterol clinical common complex compound congenital correction decreased defects deficiency dehydrogenase demonstrate diagnosis disease disorders early effects elevated encoding enzyme et al expression fatty acid function gene therapy genistein glucose glycosylation human identified impaired important improved inborn errors increased individuals Inherit Metab inhibition involved known lead levels liver long-term lysosomal metabolism methylmalonic mice mitochondrial Mol Genet Metab molecular mouse mtDNA muscle mutations neurological newborn screening normal organic outcome oxidation pathway patients Pediatr phenotype plasma present Primary production progressive protein reduced regulation replacement reported response role screening secondary sequencing severe showed specific storage studies substrate suggested symptoms syndrome synthase synthesis testing therapeutic tion tissues transfer transplantation transport treated treatment trial urea cycle urine vectors