inborn error of metabolism

DEFINITIONS OF: inborn error of metabolism

Types:: show 4 types...; hide 4 types...; 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; PKU, phenylketonuria
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

Type 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

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