Title

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

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