Journal of Genetic Disorders & Genetic Reports ISSN: 2327-5790

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Review Article, J Genet Disor Genet Rep Vol: 7 Issue: 2

Phenylketonuria and Genetics

Ittan SP*

Department of Clinical Genomics, Dominican College, Blauvelt, Orangeburg, New York, USA

*Corresponding Author : Ittan SP
Department of Clinical Genomics, Dominican College, Blauvelt, Orangeburg, New York, USA
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+(71) 8904-3333
E-mail: [email protected]

Received: May 10, 2018 Accepted: June 14, 2018 Published: June 21, 2018

Citation: Ittan SP (2018) Phenylketonuria and Genetics. J Genet Disor Genet Rep 7:2. doi: 10.4172/2327-5790.1000173

Abstract

Phenylketonuria is a disorder affecting the levels of aromatic amino acid, phenylalanine. It results from the deficiency of phenylalanine hydroxylase (PAH) and if untreated it can result in intellectual disability. The incidence of Phenylketonuria (PKU) is 1 in 13,500 to 19,000 births in the United States.

Keywords: Phenylalanine hydroxylase; Phenylketonuria; Tetrahydrobiopterin

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