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
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References in periodicals archive ?
Maple syrup urine disease (MSUD; OMIM# 248600) is an autosomal recessive inborn error of metabolism, which can be managed by specific dietary modifications of branched chain amino acid intake.
Phenylketonuria is an inborn error of metabolism that results in decreased metabolism of the amino acid phenylalanine.
Muscat: Two years back in May, Niketh Nandan, a three-year-old Indian boy in Muscat, was suffering from an inborn error of metabolism, developmental delay and was on a nasogastric tube feeding.
Genetic, metabolic and Chromosomal disorders, collectively called 'Inborn error of metabolism' are inherited disorders, transmitted from parents to off springs.
Genetic, metabolic and Chromosomal disorders (collectively called "Inborn error of metabolism" are inherited disorders, transmitted from parents to off springs.
The presence of these lesions is unique to MMA, an inborn error of metabolism. These lesions were best visualized in the T2-weighted MRI sequences.
I have two sons with a very rare inborn error of metabolism: trifunctional protein deficiency.