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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Words linked to "Inborn error of metabolism" : PKU, hereditary disease, genetic disorder, phenylketonuria, inherited disease, Niemann-Pick disease, genetic disease, hereditary condition, inherited disorder, genetic defect, lysinemia, metabolic disorder, genetic abnormality, galactosemia, congenital disease |
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