Newborn screening for inherited metabolic disease

Piero Rinaldo, Dietrich Matern

Research output: Chapter in Book/Report/Conference proceedingChapter

6 Citations (Scopus)

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: A Clinical Approach
PublisherSpringer Berlin Heidelberg
Pages251-261
Number of pages11
ISBN (Print)9783540747222
DOIs
StatePublished - 2010

Fingerprint

Metabolic Diseases
Hyperammonemia
Inborn Errors Metabolism
Ketosis
Acidosis
Health
Infection

ASJC Scopus subject areas

  • Medicine(all)

Cite this

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

Newborn screening for inherited metabolic disease. / Rinaldo, Piero; Matern, Dietrich.

Inherited Metabolic Diseases: A Clinical Approach. Springer Berlin Heidelberg, 2010. p. 251-261.

Research output: Chapter in Book/Report/Conference proceedingChapter

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