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Definitions and Synonyms of inborn error of metabolism | Another word for inborn error of metabolism | What is inborn error of metabolism?

Definition 1: any of a number of diseases in which an inherited defect (usually a missing or inadequate enzyme) results in an abnormality of metabolism - [noun denoting state]

(inborn error of metabolism is a kind of ...) a disorder or defect of metabolism

(inborn error of metabolism is a kind of ...) a disease or disorder that is inherited genetically

(... is a kind of inborn error of metabolism ) a genetic disease (autosomal recessive) in which an enzyme needed to metabolize galactose is deficient or absent; typically develops shortly after birth

(... is a kind of inborn error of metabolism ) 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

(... is a kind of inborn error of metabolism ) a disorder of lipid metabolism that is inherited as an autosomal recessive trait

(... is a kind of inborn error of metabolism ) 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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