phenylketonuria

Noun

Meaning

a genetic disorder of metabolism; lack of the enzyme needed to turn phenylalanine into tyrosine results in an accumulation of phenylalanine in the body fluids which causes various degrees of mental deficiency

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Examples

Phenylalanine and phenylketonuria High levels of the naturally-occurring essential amino acid phenylalanine are a health hazard to those born with phenylketonuria (PKU), a rare inherited disease that prevents phenylalanine from being properly metabolized. Source: Internet

However, if someone with the phenylketonuria mutation follows a strict diet that avoids this amino acid, they remain normal and healthy. Source: Internet

In most cases, a repeat test should be done at approximately two weeks of age to verify the initial test and uncover any phenylketonuria that was initially missed. Source: Internet

People with the genetic disorder phenylketonuria are advised to avoid aspartame as they have a decreased ability to metabolize phenylalanine. Source: Internet

Protein-rich foods or the sweetener aspartame can act as poisons for people with phenylketonuria. Source: Internet

Signs and symptoms Blood is taken from a two-week-old infant to test for phenylketonuria PKU is commonly included in the newborn screening panel of most countries, with varied detection techniques. Source: Internet

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