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