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Encyclopedia > Inborn errors of metabolism

Inborn errors of metabolism are a large group of rare but often serious metabolic disorders that generally arise from deficiency or malfunction of enzymes that regulate conversion of various substances into others. Medical problems arise due to accumulation of toxic intermediates or decreased synthesis of essential compounds.


Common examples include phenylketonuria and Gaucher's disease.


Inborn errors may be suspected in children with poor development, seizures or characteristic features. Diagnosis is usually by mass spectrometry of serum and urine, or by DNA testing.


  Results from FactBites:
 
HON Mother & Child Glossary, Disorders of Metabolism in Childhood (468 words)
Most metabolic diseases are caused by single defects in particular biochemical pathways, defects that are most often due to the deficient activity of individual enzymes (which are needed to stimulate a metabolic process) on a substrate (starting material).
Metabolic disorders in childhood are usually carbohydrate metabolism disorders or pyruvate metabolism disorders.
A severe metabolic disorder may be diagnosed in the foetus by using samples from the amniotic fluid surrounding the embryo.
Inborn error of metabolism - Wikipedia, the free encyclopedia (694 words)
Inborn errors of metabolism comprise a large class of genetic diseases involving disorders of metabolism.
The term inborn error of metabolism was coined by a British physician, Archibald Garrod (1857-1936), in the early 20th century.
Traditionally the inherited metabolic diseases were categorized as disorders of carbohydrate metabolism, amino acid metabolism, organic acid metabolism, or lysosomal storage diseases.
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