| NOUN | state | 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 |
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| Meaning | 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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| Narrower | Niemann-Pick disease | A disorder of lipid metabolism that is inherited as an autosomal recessive trait |
| galactosemia | A genetic disease (autosomal recessive) in which an enzyme needed to metabolize galactose is deficient or absent | |
| lysinemia | An inborn error of metabolism in which the lack of certain enzymes leads to an inability to metabolize the amino acid lysine | |
| phenylketonuria, PKU | A genetic disorder of metabolism | |
| Broader | genetic disease, genetic disorder, genetic abnormality, genetic defect, congenital disease, inherited disease, inherited disorder, hereditary disease, hereditary condition | A disease or disorder that is inherited genetically |
| metabolic disorder | A disorder or defect of metabolism | |
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