Phenylalanine hydroxylase gene mutation R408W is present on 84% of Estonian phenylketonuria chromosomes.

doi:10.1159/000472217

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Article

Phenylalanine hydroxylase gene mutation R408W is present on 84% of Estonian phenylketonuria chromosomes.

European journal of human genetics : EJHG - 1 Jan 1996

Lilleväli H, Ounap K, Metspalu A

Abstract excerpt

Phenylalanine hydroxylase (PAH) is the enzyme which converts phenylalanine into tyrosine. In case of its deficiency, hyperphenylalaninemia is observed, which leads to phenylketonuria (PKU), a disease causing mental retardation, unless treated with a low-phenylalanine diet since early childhood. I...

Topics

Estonia
Humans
Infant, Newborn
Mutation
Neonatal Screening
Phenylalanine Hydroxylase
Phenylketonurias
Polymorphism, Genetic
Retrospective Studies

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