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

Fingerprint

Inborn Errors Metabolism
Organic acids
Metabolism
Amino acids
Amino Acids
Acids
Clinical laboratories
Defects
Hospital Laboratories
Inborn Genetic Diseases
Pediatric Hospitals
Clinical Laboratory Techniques
Poisons
Metabolic Networks and Pathways
Energy Metabolism
Urea
Pediatrics
Food
Metabolites
Enzymes

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

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

Amino and organic acid analysis : Essential tools in the diagnosis of inborn errors of metabolism. / Phipps, William S.; Jones, Patricia M; Patel, Khushbu K.

Advances in Clinical Chemistry. Academic Press Inc., 2019. (Advances in Clinical Chemistry).

Research output: Chapter in Book/Report/Conference proceedingChapter

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