Chapter title |
Determination of Phenylalanine and Tyrosine by High Performance Liquid Chromatography-Tandem Mass Spectrometry
|
---|---|
Chapter number | 23 |
Book title |
Clinical Applications of Mass Spectrometry in Biomolecular Analysis
|
Published in |
Methods in molecular biology, January 2016
|
DOI | 10.1007/978-1-4939-3182-8_23 |
Pubmed ID | |
Book ISBNs |
978-1-4939-3181-1, 978-1-4939-3182-8
|
Authors |
Judy Peat, Uttam Garg |
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. |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Unknown | 23 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Researcher | 4 | 17% |
Student > Doctoral Student | 4 | 17% |
Student > Ph. D. Student | 3 | 13% |
Student > Master | 3 | 13% |
Other | 2 | 9% |
Other | 1 | 4% |
Unknown | 6 | 26% |
Readers by discipline | Count | As % |
---|---|---|
Medicine and Dentistry | 4 | 17% |
Agricultural and Biological Sciences | 3 | 13% |
Biochemistry, Genetics and Molecular Biology | 3 | 13% |
Environmental Science | 2 | 9% |
Unspecified | 1 | 4% |
Other | 4 | 17% |
Unknown | 6 | 26% |