How to sign: any of a number of diseases in which an inherited defect (usually a missing or inadequate enzyme) results in an abnormality of metabolism
Categories: congenital disease, genetic abnormality, genetic defect, genetic disease, genetic disorder, hereditary condition, hereditary disease, inherited disease, inherited disorder, metabolic disorder
Within this category: galactosemia, lysinemia, Niemann-Pick disease, phenylketonuria