Inborn error of metabolism
noun, plural: inborn errors of metabolism
Any of the various congenital genetic biochemical disorders of metabolism
Metabolism pertains to all the chemical reactions involved in modifying a molecule into another. The major functions of metabolism are for storage (i.e. converting certain molecules as an energy source for various cellular processes), for transforming certain molecules as a component of biomolecules (e.g. carbohydrates, proteins, lipids, and nucleic acids), and for eliminating byproducts such as nitrogenous wastes. There are instances wherein metabolism is affected by certain congenital (inborn) genetic defect. A mutation in a gene could produce a protein with a defective structure or function. The defect may be inherited, i.e. the altered gene and the associated protein it codes for may be passed on from the parent to the offspring especially when the correct genetic sequences coding for particular enzymes is absent. The result may be a deficiency or the total absence of that enzyme, which means that certain biochemical pathways may not be fully executed due to this missing component. Some of the inborn errors of metabolisms are lysosomal storage diseases, peroxisomal diseases, and mitochondrial diseases. The term was coined by Archibald Garrod (a British physician) in 1908.
- congenital metabolic disease
- inherited metabolic disorder