Newborn screening for inherited metabolic disease

Piero Rinaldo, Dietrich Matern

Research output: Chapter in Book/Report/Conference proceedingChapter

6 Scopus citations

Abstract

The classic presentation of inborn errors of metabolism is with a free period of apparent health that may last days or even years, but it is followed by overwhelming life threatening disease. The episode usually follows catabolism introduced usually by acute infection; sometimes after surgery. Initial laboratory evaluation needs only the routine clinical laboratory to establish acidosis or alkaoisis, hyperammonemia, ketosis, hypo-clycimia, or latic acidemia.

Original languageEnglish (US)
Title of host publicationInherited Metabolic Diseases
Subtitle of host publicationA Clinical Approach
PublisherSpringer Berlin Heidelberg
Pages251-261
Number of pages11
ISBN (Print)9783540747222
DOIs
StatePublished - Dec 1 2010

ASJC Scopus subject areas

  • Medicine(all)

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    Rinaldo, P., & Matern, D. (2010). Newborn screening for inherited metabolic disease. In Inherited Metabolic Diseases: A Clinical Approach (pp. 251-261). Springer Berlin Heidelberg. https://doi.org/10.1007/978-3-540-74723-9_27