Inborn error of metabolism (redirected from Inborn errors of metabolism)

inborn error of metabolism

n.

Any of a group of congenital disorders caused by an inherited defect in a single specific enzyme that results in a disruption or abnormality in a specific metabolic pathway.

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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

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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