General aspects and current view of the molecular study of Phenylketonuria (PKU) in Mexico

General aspects and current view of the molecular study of Phenylketonuria (PKU) in Mexico

Phenylketonuria (PKU) is an autosomic recessive inborn errors of metabolism. It is caused y the deficiency of phenylalanine hydroxylase, an enzyme encoded by the PAH gene in 12q22. This gene has a wide mutation spectrum and several different genotypes have been identified. There are many experimenta...

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Bibliographic Details
Main Authors: Miguel Ángel Alcántara-Ortigoza, Benilde García-de Teresa, Rehotbevely Barrientos- Ríos
Format: Article
Language:Spanish
Published: Instituto Nacional de Pediatría 2014-07-01
Series:Acta Pediátrica de México
Subjects:
Fenilcetonuria
fenilalanina hidroxilasa
genotipo
espectro mutacional de PAH
Online Access:http://ojs.actapediatrica.org.mx/index.php/APM/article/view/595

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