inborn error of metabolism


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Related to inborn error of metabolism: metabolic disorder, phenylketonuria
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Noun1.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
metabolic disorder - a disorder or defect 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
References in periodicals archive ?
It is incumbent upon physicians to know the limitations of NBS testing, and not to blindly assume that a normal comprehensive profile effectively excludes an inborn error of metabolism.
No findings suggestive of an inborn error of metabolism were present.
PKU is an inborn error of metabolism that can lead to severe learning disability if it is not treated.
PKU is an inborn error of metabolism characterized by the lack of the phenylalanine dehydrogenase enzyme.