Biochemical Genetics and Inborn Errors of Metabolism

  • Chunli Yu
  • Melissa P. Wasserstein
  • George A. Diaz
Reference work entry


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.


Enzyme Replacement Therapy Fabry Disease Newborn Screening Gauche Disease Pompe Disease 
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Further Reading

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Copyright information

© Springer Science+Business Media New York 2013

Authors and Affiliations

  • Chunli Yu
    • 1
  • Melissa P. Wasserstein
    • 2
  • George A. Diaz
    • 3
  1. 1.Department of Genetics & Genomic Sciences and PediatricsMount Sinai School of MedicineNew YorkUSA
  2. 2.Mount Sinai School of MedicineNew YorkUSA
  3. 3.Department of Genetics & Genomic SciencesMount Sinai School of MedicineNew YorkUSA

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