Definitions of inborn error of metabolism
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any of a number of diseases in which an inherited defect (usually a missing or inadequate enzyme) results in an abnormality of metabolism
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types:
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galactosemia
a genetic disease (autosomal recessive) in which an enzyme needed to metabolize galactose is deficient or absent; typically develops shortly after birth
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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
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Niemann-Pick disease
a disorder of lipid metabolism that is inherited as an autosomal recessive trait
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PKU, phenylketonuria
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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type of:
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metabolic disorder
a disorder or defect of metabolism
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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
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