inborn error of metabolism

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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
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