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" : congenital disease, Niemann-Pick disease, phenylketonuria, inherited disorder, genetic defect, inherited disease, genetic disorder, lysinemia, metabolic disorder, PKU, genetic abnormality, hereditary disease, genetic disease, galactosemia, hereditary condition |
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