Biochemical genetics and inborn errors of metabolism

Chunli Yu, Melissa P. Wasserstein, George A. Diaz

Research output: Chapter in Book/Report/Conference proceedingChapter


Inborn errors of metabolism (IEM) include a broad spectrum of defects of various gene products that affect intermediary metabolism in the body, resulting in clinical disease. Studying the molecular and biochemical mechanisms of these inherited disorders, systematically summarizing the disease phenotype and natural history, and providing diagnostic rationale and methodology and treatment strategy comprise the context of human biochemical genetics. This chapter focuses on newborn screening of IEM and laboratory diagnosis of these conditions and summarizes the clinical features, genetic basis, and clinical managements of some common IEM.

Original languageEnglish (US)
Title of host publicationMolecular Genetic Pathology
PublisherSpringer New York
Number of pages30
ISBN (Electronic)9781461448006
ISBN (Print)1461447992, 9781461447993
StatePublished - Mar 1 2013
Externally publishedYes

ASJC Scopus subject areas

  • General Medicine


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