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Journal of Zhejiang University SCIENCE B 2006 Vol.7 No.2 P.165-166

http://doi.org/10.1631/jzus.2006.B0165


Human biochemical genetics: an insight into inborn errors of metabolism


Author(s):  Yu Chunli, Scott C. Ronald

Affiliation(s):  Laboratory of Biochemical Genetics, Emory University, Decatur, GA 30033, USA; more

Corresponding email(s):   cyu@genetics.emory.edu, crscott@u.washington.edu

Key Words:  Inborn errors of metabolism (IEM), Newborn screening (NBS), Disease phenotype and therapy


Yu Chunli, Scott C. Ronald. Human biochemical genetics: an insight into inborn errors of metabolism[J]. Journal of Zhejiang University Science B, 2006, 7(2): 165-166.

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author="Yu Chunli, Scott C. Ronald",
journal="Journal of Zhejiang University Science B",
volume="7",
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pages="165-166",
year="2006",
publisher="Zhejiang University Press & Springer",
doi="10.1631/jzus.2006.B0165"
}

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%A Scott C. Ronald
%J Journal of Zhejiang University SCIENCE B
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%@ 1673-1581
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%I Zhejiang University Press & Springer
%DOI 10.1631/jzus.2006.B0165

TY - JOUR
T1 - Human biochemical genetics: an insight into inborn errors of metabolism
A1 - Yu Chunli
A1 - Scott C. Ronald
J0 - Journal of Zhejiang University Science B
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SP - 165
EP - 166
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PB - Zhejiang University Press & Springer
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DOI - 10.1631/jzus.2006.B0165


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.

Darkslateblue:Affiliate; Royal Blue:Author; Turquoise:Article

Reference

[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.

[2] Guthrie, R., 1969. Screening for phenylketonuria. Triangle, 9:104-109.

[3] Hoffmann, G., Sweetman, L., 1987. O-(2,3,4,5,6-penta-fluorobenzyl)oxime-trimethylsilyl ester derivatives for quantitative gas chromatographic and gas chromatographic-mass spectrometric studies of aldehydes, ketones and oxoacids. J. Chromatogr., 421:336-343.

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