inborn error of metabolism(redirected from Defects in erythrocyte metabolism)
Also found in: Thesaurus, Medical.
Switch to new thesaurus
|Noun||1.||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|
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
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
Based on WordNet 3.0, Farlex clipart collection. © 2003-2012 Princeton University, Farlex Inc.