Laboratory diagnosis of inborn errors of metabolism

Devin Oglesbee, Piero Rinaldo

Research output: Chapter in Book/Report/Conference proceedingChapter

1 Citation (Scopus)

Abstract

Inborn errors of metabolism are recognized with increasing frequency as a cause of disease manifestations in every organ and at every life interval from the fetus to the geriatric patient [1]. Yet their collective incidence is often underestimated, and diagnostic errors often occur, leading to devastating consequences for patients and their families [2]. Among an increasing number of single-gene disorders that are currently recognized, inborn errors of the intermediate metabolism of amino acids, carbohydrates, and fatty acids deserve special attention. The majority of these diseases have been identified within the past 30 years, primarily through the detection of endogenous metabolites abnormally accumulating in biologic fluids [3]. This chapter focuses predominantly on the laboratory diagnosis of three major groups of metabolic diseases: Organic acidurias, congenital lactic acidemias, and disorders of fatty acid transport and oxidation. Aspects of urea cycle defects and amino acid disorders are covered to a lesser extent. The inborn errors listed in Table 22.1 share a common natural history, which is the occurrence of either acute life-threatening illness in early infancy or unexplained developmental delay with intercurrent episodes of metabolic decompensation in later childhood. Unfortunately, the clinical presentations of these diseases are often attributed to a variety of other causes (Table 22.2). Indeed, once a patient is properly diagnosed with a metabolic condition, it is not uncommon to find retrospectively that a sibling within the same family presented with similar symptoms but had passed away without a precise diagnosis.

Original languageEnglish (US)
Title of host publicationLiver Disease in Children, Third Edition
PublisherCambridge University Press
Pages531-544
Number of pages14
ISBN (Electronic)9780511547409
ISBN (Print)9780521856577
DOIs
StatePublished - Jan 1 2007

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Inborn Errors Metabolism
Clinical Laboratory Techniques
Inborn Errors Amino Acid Metabolism
Fatty Acids
Metabolic Diseases
Diagnostic Errors
Natural History
Geriatrics
Urea
Siblings
Milk
Fetus
Carbohydrates
Amino Acids
Incidence
Genes

ASJC Scopus subject areas

  • Medicine(all)

Cite this

Oglesbee, D., & Rinaldo, P. (2007). Laboratory diagnosis of inborn errors of metabolism. In Liver Disease in Children, Third Edition (pp. 531-544). Cambridge University Press. https://doi.org/10.1017/CBO9780511547409.024

Laboratory diagnosis of inborn errors of metabolism. / Oglesbee, Devin; Rinaldo, Piero.

Liver Disease in Children, Third Edition. Cambridge University Press, 2007. p. 531-544.

Research output: Chapter in Book/Report/Conference proceedingChapter

Oglesbee, D & Rinaldo, P 2007, Laboratory diagnosis of inborn errors of metabolism. in Liver Disease in Children, Third Edition. Cambridge University Press, pp. 531-544. https://doi.org/10.1017/CBO9780511547409.024
Oglesbee D, Rinaldo P. Laboratory diagnosis of inborn errors of metabolism. In Liver Disease in Children, Third Edition. Cambridge University Press. 2007. p. 531-544 https://doi.org/10.1017/CBO9780511547409.024
Oglesbee, Devin ; Rinaldo, Piero. / Laboratory diagnosis of inborn errors of metabolism. Liver Disease in Children, Third Edition. Cambridge University Press, 2007. pp. 531-544
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