Inborn Errors of Metabolism
Inborn errors of metabolism form a large class of genetic diseases. In most of the disorders, problems arise due to accumulation of substances which are toxic or interfere with normal function, or to the effects of reduced ability to synthesize essential compounds.
Part of: Genetic
About Inborn Errors of Metabolism
Metabolism is a sequence of chemical reactions that take place in cells in the body. These reactions are responsible for the breakdown of nutrients and the generation of energy in our bodies.
Inborn errors of metabolism (IEM) are a group of disorders that causes a block in a metabolic pathway leading to clinically significant consequences.
Specific chemical compounds, called enzymes, are responsible for the reactions that make up metabolism. There are also ‘co-factors’, or compounds that help enzymes carry out their reactions…Read more about Inborn Errors of Metabolism NIH – National Human Genome Institute