INBORN ERROR OF METABOLISM

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 Dictionary entry overview: What does inborn error of metabolism mean? 

• INBORN ERROR OF METABOLISM (noun)
  The noun INBORN ERROR OF METABOLISM has 1 sense:

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

  Familiarity information: INBORN ERROR OF METABOLISM used as a noun is very rare.

 Dictionary entry details 

• INBORN ERROR OF METABOLISM (noun)

Sense 1

Meaning:

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

Classified under:

Nouns denoting stable states of affairs

Hypernyms ("inborn error of metabolism" is a kind of...):

metabolic disorder (a disorder or defect of metabolism)

congenital disease; genetic abnormality; genetic defect; genetic disease; genetic disorder; hereditary condition; hereditary disease; inherited disease; inherited disorder (a disease or disorder that is inherited genetically)

Hyponyms (each of the following is a kind of "inborn error of metabolism"):

galactosemia (a genetic disease (autosomal recessive) in which an enzyme needed to metabolize galactose is deficient or absent; typically develops shortly after birth)

lysinemia (an inborn error of metabolism in which the lack of certain enzymes leads to an inability to metabolize the amino acid lysine; characterized by muscular weakness and mental retardation)

Niemann-Pick disease (a disorder of lipid metabolism that is inherited as an autosomal recessive trait)

phenylketonuria; PKU (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)

 Context examples 

A genetic inborn error of metabolism characterized by the deficiency of one of the enzymes necessary for the urea cycle.

(Inborn Urea Cycle Disorder, NCI Thesaurus)