Engelsk substantiv: inborn error of metabolism |
1. | inborn error of metabolism (om tilstand) 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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| Mindre spesifikke uttrykk | congenital disease, genetic abnormality, genetic defect, genetic disease, genetic disorder, hereditary condition, hereditary disease, inherited disease, inherited disorder, metabolic disorder |
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| Mere spesifikke uttrykk | galactosemia, lysinemia, Niemann-Pick disease, phenylketonuria, PKU |
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