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Journal of Zhejiang University SCIENCE B

, Volume 7, Issue 2, pp 165–166 | Cite as

Human biochemical genetics: An insight into inborn errors of metabolism

  • Yu Chunli 
  • Scott C. Ronald 
Report

Abstract

Inborn errors of metabolism (IEM) include a broad spectrum of defects of various gene products that affect intermediary metabolism in the body. Studying the molecular and biochemical mechanisms of those inherited disorder, systematically summarizing the disease phenotype and natural history, providing diagnostic rationale and methodology and treatment strategy comprise the context of human biochemical genetics. This session focused on: (1) manifestations of representative metabolic disorders; (2) the emergent technology and application of newborn screening of metabolic disorders using tandem mass spectrometry; (3) principles of managing IEM; (4) the concept of carrier testing aiming prevention. Early detection of patients with IEM allows early intervention and more options for treatment.

Key words

Inborn errors of metabolism (IEM) Newborn screening (NBS) Disease phenotype and therapy 

References

  1. Chace, D.H., Kalas, T.A., 2005. A biochemical perspective on the use of tandem mass spectrometry for newborn screening and clinical testing. Clin. Biochem., 38(4):296–309. [doi: 10.1016/j.clinbiochem.2005.01.017]PubMedGoogle Scholar
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Copyright information

© Springer-Verlag 2006

Authors and Affiliations

  • Yu Chunli 
    • 1
  • Scott C. Ronald 
    • 2
  1. 1.Laboratory of Biochemical GeneticsEmory UniversityDecaturUSA
  2. 2.Center on Human Development and DisabilityUniversity of WashingtonSeattleUSA

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