Inborn errors of metabolism

Alternative names:

Human hereditary biochemical disorders

Definition:

Inborn errors of metabolism are genetic disorders (numbering in the hundreds) effecting metabolism. These errors interfere with the synthesis of proteins, carbohydrates, fats and enzymes - to name only a few. If this interference with synthesis is significant enough, clinical and chemical consequences may result. Either no chemical reaction takes place, too little or too much of an end product or intermediate metabolite is formed or an abnormal metabolite is formed. These disorders usually involve abnormalities in the breakdown or production or storage of proteins, fats and carbohydrates or in the energy cycles of cells. Absence or excesses of normal or abnormal metabolites can lead to disease and death. See also galactosemia, PKU, lactose intolerance, and maple syrup urine disease as examples of inborn errors of metabolism.