inborn error of metabolism


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Related to inborn error of metabolism: metabolic disorder, phenylketonuria
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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
References in periodicals archive ?
The presence of these lesions is unique to MMA, an inborn error of metabolism.
Second line investigations (blood culture, CT scan, MRI, screening for inborn error of metabolism and Torch antibody titer) were done in selected neonates.
From the history, examination and investigations we diagnosed it as a case of an Inborn Error of Metabolism i.
An inborn error of metabolism (IEM) is commonly part of the differential diagnosis of an ill infant or young child, but one is not usuallyconsidered for AMS in a teenager.
If the cause of hypothyroidism is not due to an identified inborn error of metabolism or an anatomical defect or dysgenesis, a re-evaluation of the need for thyroid replacement is usually done at 3 years of age.
SIDS infants probably have some vulnerability that predisposes them to an unexplained death, whether that is an inborn error of metabolism, prematurity, or exposure to cigarette smoke.