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Inborn Errors of Metabolism

Inborn errors of metabolism (IEM) are a group of rare disorders caused by genetic defects that affect the body's ability to break down particular nutrients in food e.g. amino acids. 

 

Affecting just 1 out of 1000 people, management of these rare conditions involves adherence to a restricted diet, often for life.

 

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Inherited (most often via both parents) and detected shortly after birth by newborn screening, IEMs are usually caused by defects in enzymes that help metabolize food, which results in the production of abnormal protein, that in turn can alter the normal functioning of cells.

 

If not managed, IEMs can cause a wide array of symptoms including delays in physical and mental development. For around fifty of the known IEMs, management is through a lifelong commitment to a restricted diet. 

In this section, you can find educational content on nutritional covering in inborn errors of metabolism, nutritional guidelines and clinical patient cases.

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