Inborn errors of metabolism (IEM) are single gene defects that result in abnormalities in the synthesis or catabolism of proteins, carbohydrates or fats. Individually they are rare but together they are common with a collective incidence in ~ 1 in 3,000 live births. Nearly every IEM has several forms that vary in age of onset, clinical severity and mode of inheritance. IEMs represent one of the few genetic diseases where prompt recognition and treatment can significantly improve outcome and morbidity/mortality.
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