PHENYLKETONURIA

Pronunciation (US):

(GB):

 Dictionary entry overview: What does phenylketonuria mean? 

• PHENYLKETONURIA (noun)
  The noun PHENYLKETONURIA has 1 sense:

1. 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

  Familiarity information: PHENYLKETONURIA used as a noun is very rare.

 Dictionary entry details 

• PHENYLKETONURIA (noun)

Sense 1

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

Classified under:

Nouns denoting stable states of affairs

Synonyms:

phenylketonuria; PKU

Hypernyms ("phenylketonuria" is a kind of...):

inborn error of metabolism (any of a number of diseases in which an inherited defect (usually a missing or inadequate enzyme) results in an abnormality of metabolism)

 Context examples 

It is considered a non-essential amino acid; however, in patients with phenylketonuria who lack phenylalanine hydroxylase and cannot convert phenylalanine into tyrosine, it is considered an essential nutrient.

(L-Tyrosine, NCI Thesaurus)

Phenylketonuria (PKU) is a genetic disorder in which the body can't process part of a protein called phenylalanine (Phe).

(Phenylketonuria, NIH: National Institute of Child Health and Human Development)

Leucine also prevents breakdown of muscle proteins after trauma or severe stress and may be beneficial for individuals with phenylketonuria.

(Leucine, NCI Thesaurus)

Representative examples include alkaptonuria, homocystinuria, tyrosinemia, and phenylketonuria.

(Amino Acid Metabolism Disorder, NCI Thesaurus)

Also called phenylketonuria.

(PKU, NCI Dictionary)