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

• 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
• phenylketonuria, PKU — 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

• metabolic disorder — a disorder or defect of metabolism
• 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