Determination of Phenylalanine and Tyrosine by High Performance Liquid Chromatography-Tandem Mass Spectrometry.
Document Type
Article
Publication Date
1-1-2016
Identifier
DOI: 10.1007/978-1-4939-3182-8_23
Abstract
Hyperphenylalaninemia/phenylketonuria (PKU) is one of the most common inborn errors of amino acid metabolism affecting about 1:15,000 infants in the United States. PKU is an autosomal recessive disorder that if untreated results in mental retardation. The most common cause of PKU is deficiency of the enzyme phenylalanine hydroxylase that converts phenylalanine to tyrosine. Tyrosine deficiency results in impaired synthesis of catecholamines and thyroxine. Less commonly, it can result from defects in the synthesis or regeneration of tetrahydrobiopterin (BH4), an essential cofactor for the enzyme phenylalanine hydroxylase. Increased phenylalanine and decreased tyrosine in blood are used in the diagnosis and follow-up of patients with PKU. LC/MS/MS method is described for the quantification of phenylalanine and tyrosine.
Journal Title
Methods in molecular biology (Clifton, N.J.)
Volume
1378
First Page
219
Last Page
225
MeSH Keywords
Blood Chemical Analysis; Chromatography, High Pressure Liquid; Phenylalanine; Statistics as Topic; Tandem Mass Spectrometry; Tyrosine
Keywords
Hyperphenylalaninemia; PKU; Phenylalanine; Phenylalanine hydroxylase; Phenylketonuria; Tandem mass spectrometry; Tetrahydrobiopterin; Tyrosine
Recommended Citation
Peat J, Garg U. Determination of Phenylalanine and Tyrosine by High Performance Liquid Chromatography-Tandem Mass Spectrometry. Methods Mol Biol. 2016;1378:219-225. doi:10.1007/978-1-4939-3182-8_23
COinS
