FREE NEJM E-TOC    HOME   |   SUBSCRIBE   |   CURRENT ISSUE   |   PAST ISSUES   |   COLLECTIONS   |   Search Term  Advanced Search

Sign in | Get NEJM's E-Mail Table of Contents — Free | Subscribe

Volume 347:2094-2095 December 26, 2002 Number 26 Next

	Since this article has no abstract, we have provided an extract of the first 100 words of the full text and any section headings.

	Full Text PDF PDA Full Text Purchase this article Add to Personal Archive Add to Citation Manager Notify a Friend E-mail When Cited Related Article by Muntau, A. C. PubMed Citation

Inherited disorders of intermediary metabolism are the prototypes for the treatment of genetic disorders. In each condition, accumulation of a metabolite results from a genetically determined abnormality in a metabolic pathway in which there is deficient biosynthesis either of an enzyme or of a cofactor necessary for the function of an enzyme, leading to abnormal activity of the enzyme. The outcome in patients identified by newborn-screening programs in the United States and around the world attests to the success of treatments based on an understanding of the pathophysiology of these disorders. Therapy spares children the ravages of severe illness, mental . . . [Full Text of this Article]

HOME  |  SUBSCRIBE  |  SEARCH  |  CURRENT ISSUE  |  PAST ISSUES  |  COLLECTIONS  |  PRIVACY  |  TERMS OF USE  |  HELP  |  beta.nejm.org Comments and questions? Please contact us. The New England Journal of Medicine is owned, published, and copyrighted © 2009 Massachusetts Medical Society. All rights reserved.