inborn error of metabolism
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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 null hypothesis that is true.
Type II error acceptance of a null hypothesis that is false.
in·born er·ror of me·tab·o·lism
a 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 metabolismAny 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 metabolisman 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 metabolism
A 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 Retardation