Amino and organic acid analysis: Essential tools in the diagnosis of inborn errors of metabolism

William S. Phipps, Patricia M Jones, Khushbu K Patel

Research output: Chapter in Book/Report/Conference proceedingChapter

Abstract

Inborn errors of metabolism (IEMs) are a large class of genetic disorders that result from defects in enzymes involved in energy production and metabolism of nutrients. For every metabolic pathway, there are defects that can occur and potentially result in an IEM. While some defects can go undetected in one's lifetime, some have moderate to severe clinical consequences. In the latter case, the biochemical defect leads to accumulation of metabolites and byproducts that are toxic or interfere with normal biological function. Disorders of amino acid metabolism, organic acid metabolism and the urea cycle comprise a large portion of IEMs. Two essential tools required for the diagnosis of these categories of disorders are amino acid and organic acid profiling. Most all clinical laboratories offering metabolic testing perform amino acid analysis, while organic acid profiling is restricted to more specialized pediatric hospitals and reference laboratories. In this chapter, we will provide an overview of various methodologies employed for amino acid and organic acid profiling as well as specific examples to demonstrate how these techniques are applied in clinical laboratories for the diagnosis of IEMs.

Original languageEnglish (US)
Title of host publicationAdvances in Clinical Chemistry
PublisherAcademic Press Inc.
DOIs
StatePublished - Jan 1 2019

Publication series

NameAdvances in Clinical Chemistry
ISSN (Print)0065-2423
ISSN (Electronic)2162-9471

Keywords

  • Amino acid analysis
  • Amino acid derivatization
  • Inborn errors of metabolism
  • Inherited metabolic diseases
  • Liquid chromatography
  • Mass spectrometry
  • Newborn screening
  • Organic acid analysis

ASJC Scopus subject areas

  • Chemistry(all)
  • Clinical Biochemistry

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  • Cite this

    Phipps, W. S., Jones, P. M., & Patel, K. K. (2019). Amino and organic acid analysis: Essential tools in the diagnosis of inborn errors of metabolism. In Advances in Clinical Chemistry (Advances in Clinical Chemistry). Academic Press Inc.. https://doi.org/10.1016/bs.acc.2019.04.001