| 释义 |
inborn error of metabolism
Thesaurus| Noun | 1. | 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 metabolismmetabolic disorder - a disorder or defect of metabolismcongenital disease, genetic abnormality, genetic defect, genetic disease, genetic disorder, hereditary condition, hereditary disease, inherited disease, inherited disorder - a disease or disorder that is inherited geneticallygalactosemia - a genetic disease (autosomal recessive) in which an enzyme needed to metabolize galactose is deficient or absent; typically develops shortly after birthlysinemia - 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 retardationNiemann-Pick disease - a disorder of lipid metabolism that is inherited as an autosomal recessive traitphenylketonuria, 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 |
EncyclopediaSeeerrorinborn error of metabolism
error [er´or] a defect or mistake in structure or function.inborn error of metabolism a genetically determined biochemical disorder in which a specific enzyme defect produces a metabolic block that may have pathologic consequences at birth, as in phenylketonuria, or in later life.measurement error the difference between what exists in reality and what is measured by a measurement method.Type I error the rejection of a hypothesis" >null hypothesis that is true.Type II error acceptance of a hypothesis" >null hypothesis that is false.in·born er·ror of me·tab·o·lisma group of disorders, each of which involves a disorder of a single unique enzyme, genetic in origin and operating from birth; effects are ascribable to accumulation of the substrate on which the enzyme normally acts (for example, phenylketonuria), to deficiency of the product of the enzyme (for example, albinism), or to forcing metabolism through an auxiliary pathway (for example, oxaluria).inborn error of metabolism Any of the expanding group, now in the hundreds, of inherited metabolic and biochemical disorders, that are divisible into those affecting 1. Small molecules–eg, simple sugars, amino or organic acids, that often have an acute onset in infancy/childhood;.2. Large molecules–eg, ↑ in 'storage diseases'–eg, mucopolysaccharidoses and glycogen storage diseases that affect older children Inborn errors of metabolism consequences
Loss of certain molecules–eg, albinism–defect of tyrosinase or Ehlers-Danlos disease–defect of lysyl-hydroxylase or others of a vast array of enzymes Accumulation of normal metabolites–eg, alkaptonuria–defect of homogentisic acid oxidase or galactosemia–defect of galactose-1-phosphate uridyl transferase Transport defects–eg, cystinuria–dibasic amino acids or intestinal disaccharidase deficiency Defects in erythrocyte metabolism–eg, glucose-6-phosphate dehydrogenase deficiency Pigment defects–eg, acute intermittent porphyria Defects in mineral metabolism–eg, Wilson's disease Vitamin defects–eg, vitamin D-dependent rickets Defects in intestinal absorption–eg, cystic fibrosis Other defects of unknown origin–eg, achondroplasia
.inborn error of metabolism an inherited biochemical abnormality in humans due to enzymic deficiencies. The term was coined by Archibald GARROD in the early 1900s, who theorized that various conditions he had studied in hospital cases were due to defective enzymes, causing the breakdown of biochemical pathways and the build-up of intermediate chemicals in the body. Garrod's work was not recognized as important until the ONE GENE/ONE ENZYME HYPOTHESIS was proposed in the 1940s.Inborn error of metabolismA rare enzyme deficiency; children with inborn errors of metabolism do not have certain enzymes that the body requires to maintain organ functions. Inborn errors of metabolism can cause brain damage and mental retardation if left untreated. Phenylketonuria is an inborn error of metabolism.Mentioned in: Mental RetardationAcronymsSeeiBEMinborn error of metabolism
Related to inborn error of metabolism: metabolic disorder, phenylketonuriaWords related to inborn error of metabolismnoun any of a number of diseases in which an inherited defect (usually a missing or inadequate enzyme) results in an abnormality of metabolismRelated Words- metabolic disorder
- congenital disease
- genetic abnormality
- genetic defect
- genetic disease
- genetic disorder
- hereditary condition
- hereditary disease
- inherited disease
- inherited disorder
- galactosemia
- lysinemia
- Niemann-Pick disease
- phenylketonuria
- PKU
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