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.
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.
Most metabolicdiseases 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 carbohydratemetabolism 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.
Inbornerrors of metabolism comprise a large class of geneticdiseases involving disorders of metabolism.
The term inbornerror of metabolism was coined by a British physician, Archibald Garrod (1857-1936), in the early 20th century.
Traditionally the inherited metabolicdiseases were categorized as disorders of carbohydratemetabolism, amino acid metabolism, organic acid metabolism, or lysosomal storage diseases.
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