inborn error of metabolism
English Thesaurus
1. any of a number of diseases in which an inherited defect (usually a missing or inadequate enzyme) results in an abnormality of metabolism (noun.state)
| hyponym | : | galactosemia, |
| definition | : | a genetic disease (autosomal recessive) in which an enzyme needed to metabolize galactose is deficient or absent; typically develops shortly after birth (noun.state) |
| hyponym | : | lysinemia, |
| definition | : | 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 (noun.state) |
| hyponym | : | niemann-pick disease, |
| definition | : | a disorder of lipid metabolism that is inherited as an autosomal recessive trait (noun.state) |
| hyponym | : | phenylketonuria, pku, |
| definition | : | 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 (noun.state) |
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