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Phenylketonuria : Causes

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Causes List

Causes could include:
  • Gene Mutation

Causes Overview Articles

Phenylketonuria
Phenylketonuria (PKU) is inherited, which means it is passed down through families. Both parents must pass on the defective gene in order for a baby to have the condition. This is called an autosomal recessive trait. Babies with PKU are missing an...
Source:ADAM
Date:September 18, 2007
Phenylketonuria
The primary diagnostic test for PKU is the measurement of phenylalanine levels in a drop of blood taken from the heel of a newborn baby's foot. This screening procedure is referred to as the Guthrie test (Guthrie bacterial inhibition assay). In th...
Source:Gale Encyclopedia of Children's Health
Phenylketonuria
PKU symptoms are caused by alterations or mutations in the genetic code for the PAH enzyme. Mutations in the PAH gene prevent the liver from producing adequate levels of the PAH enzyme needed to break down phenylalanine. The PAH gene and its PKU m...
Source:Gale Encyclopedia of Genetic Disorders Part I
Phenylketonuria
PKU symptoms are caused by alterations or mutations in the genetic code for the PAH enzyme. Mutations in the PAH gene prevent the liver from producing adequate levels of the PAH enzyme needed to break down phenylalanine. The PAH gene and its PKU m...
Source:Gale Encyclopedia of Genetic Disorders Part II
Phenylketonuria
The underlying cause of PKU is mutation in the gene that tells the body to make the enzyme phenylalanine hydroxylase. This enzyme allows the body to break down phenylalanine and ultimately use it to build proteins. Normally, the first step in phen...
Source:Gale Encyclopedia of Medicine
Phenylketonuria
Phenylketonuria (PKU) is an autosomal recessive disorder that results from phenylalanine hydroxylase (PAH) deficiency. If uncontrolled, PKU leads to mental retardation. The prevalence is approximately 1 in 10,000 in temperate climates and varies b...
Source:Gale Encyclopedia of Public Health

Specific Causes Articles

Gene mutations
In a strict sense, mutations are changes in genes not caused by genetic recombination. A change in the base sequence of DNA , for example, represents a mutational change.
Source:Gale Encyclopedia of Genetic Disorders Part I
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