Inborn errors of metabolism

Inborn errors of metabolism are rare disorders caused by genetic defects that affect the body's ability to break down particular nutrients found in food e.g. amino acids. Most often inherited from both parents, they are usually caused by defects in enzymes that help break down ('metabolise') food. This in turn can lead to a harmful build-up of certain chemicals, which, if not managed, can cause a wide array of symptoms including delays in physical and mental development.

 

The role of nutrition

Management of inborn errors of metabolism is usually through a lifelong commitment to a restricted diet. In the example of the amino acid disorder Phenylketonuria (PKU), individuals cannot break down the amino acid phenylalanine, which leads to a build-up on the brain. A build-up of this kind can cause long-term health issues, including irreversible brain damage. Since amino acids such as phenylalanine are the building blocks of the protein we eat, PKU patients must stick to a low-protein diet, alongside supplementation of the essential and non-essential amino acids that our bodies need to function properly.

Nutricia is the world's leading metabolic nutrition company supporting the greatest number of people across the widest variety of inborn errors of metabolism. We use our unique nutritional expertise to develop high-quality products that help make the lives of patients and their families a little easier.

 

Future based research

At Nutricia Metabolics our vision is to be the leading and trusted lifetime partner for all people with inborn errors of metabolism, inspiring them to reach their potential and fulfill their dreams.

Our research and development is carried out to the highest possible standards. We focus on developing products that offer valuable improvements in dietary management for patients, using the latest scientific evidence and thinking.

The new Research and Development Centre in Utrecht, the Netherlands, offers state-of-the -art facilities, including a pilot plant for small-scale production, and sensory labs where patients can test our products.

In addition to our product porcolio, we provide a range of comprehensive information and support services, including scientific brochures and literature for healthcare professionals, as well as educational tools and recipe brochures for patients and their families.