| has gloss | (noun) any of a number of diseases in which an inherited defect (usually a missing or inadequate enzyme) results in an abnormality of metabolism
inborn error of metabolism |
| lexicalization | eng: inborn error of metabolism |
| subclass of | (noun) a disorder or defect of metabolism
metabolic disorder |
| subclass of | (noun) a disease or disorder that is inherited genetically
inherited disease, genetic disorder, hereditary condition, inherited disorder, congenital disease, genetic abnormality, genetic defect, hereditary disease, genetic disease |
| has subclass | (noun) a genetic disease (autosomal recessive) in which an enzyme needed to metabolize galactose is deficient or absent; typically develops shortly after birth
galactosemia |
| has subclass | (noun) 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
lysinemia |
| has subclass | (noun) a disorder of lipid metabolism that is inherited as an autosomal recessive trait
Niemann-Pick disease |
| has subclass | (noun) 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
PKU, phenylketonuria |