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