inborn error of metabolism

(redirected from Congenital metabolic disease)
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Related to Congenital metabolic disease: Inborn errors of metabolism, Metabolic defects
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Noun1.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
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
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References in periodicals archive ?
But Baji also has Type I diabetes, a congenital metabolic disease characterised by her body's inability to produce insulin and control sugar in her blood.
The liver recipient from Fukui suffers from hypenoxaluria, a congenital metabolic disease that could cause renal insufficiency, while the Shiga recipient has primary sclerosing cholangitis, which can develop into hepatic cirrhosis.
In congenital metabolic diseases of the liver, the number of patients undergoing liver transplantation is gradually increasing (3).

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