inborn error of metabolism

Từ điển WordNet v3.1 - WordNet Dictionary

noun

any of a number of diseases in which an inherited defect (usually a missing or inadequate enzyme) results in an abnormality of metabolism
• Hypernyms:
metabolic disorder, genetic disease, genetic disorder, genetic abnormality, genetic defect,
congenital disease, inherited disease, inherited disorder, hereditary disease, hereditary condition
• Hyponyms:
galactosemia, lysinemia, Niemann-Pick disease, phenylketonuria, PKU