WordNet: inborn error of metabolism

any of a number of diseases in which an inherited defect (usually a missing or inadequate enzyme) results in an abnormality of metabolism

• hypernym metabolic disorder

• hypernym congenital disease, genetic abnormality, genetic defect, genetic disease, genetic disorder, hereditary condition, hereditary disease, inherited disease, inherited disorder

• hyponym galactosemia

• hyponym lysinemia

• hyponym Niemann-Pick disease

• hyponym PKU, phenylketonuria

inborn error of metabolism

• (suomi) synnynnäinen aineenvaihduntahäiriö (synonyymi)