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INBORN ERROR OF METABOLISM
| Pronunciation (US): |  | (GB): | |
I. (noun)
Sense 1
Meaning:
Any of a number of diseases in which an inherited defect (usually a missing or inadequate enzyme) results in an abnormality of metabolism
Classified under:
Nouns denoting stable states of affairs
Hypernyms ("inborn error of metabolism" is a kind of...):
metabolic disorder (a disorder or defect of metabolism)
congenital disease; genetic abnormality; genetic defect; genetic disease; genetic disorder; hereditary condition; hereditary disease; inherited disease; inherited disorder (a disease or disorder that is inherited genetically)
Hyponyms (each of the following is a kind of "inborn error of metabolism"):
galactosemia (a genetic disease (autosomal recessive) in which an enzyme needed to metabolize galactose is deficient or absent; typically develops shortly after birth)
lysinemia (an inborn error of metabolism in which the lack of certain enzymes leads to an inability to metabolize the amino acid lysine; characterized by muscular weakness and mental retardation)
Niemann-Pick disease (a disorder of lipid metabolism that is inherited as an autosomal recessive trait)
phenylketonuria; PKU (a genetic disorder of metabolism; lack of the enzyme needed to turn phenylalanine into tyrosine results in an accumulation of phenylalanine in the body fluids which causes various degrees of mental deficiency)
