phenylketonuria

Noun
  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 (synset 114530977)
    is a type 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
    same as: pku

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