Rare Disease Day: Nutricia behind people worldwide with Inborn Errors of Metabolism

Nutricia will join hundreds of organizations around the world on February 28 to recognize Rare Disease Day and take this opportunity to shed the light on people worldwide with Inborn Errors of Metabolism and show its support to ensure these individuals live their lives beyond their disease.

Collectively there are more than 300 million people living with a rare disease worldwide, rare diseases include IEMs, also called Inborn Errors of Metabolism1. IEMs are a group of over 500 rare disorders caused by genetic defects that affect the body’s ability to break down particular food nutrients, including protein or carbohydrates. IEMs are inherited, most often via both parents, and some of them are detected shortly after birth by newborn screening. In most cases, these conditions require lifelong management through a modified diet and supplementation with specialized medical nutrition.

Importance of innovative products and services meetings these patients’ special nutritional needs

For around fifty of the known IEMs, management is through a lifelong commitment to a restricted diet to avoid developing serious physical and mental disabilities, and they often rely on medical nutrition for the entirety of their life. It is important these patients get innovative products but also services that meet their special nutritional needs so they can grow and thrive. PKU patients for example must stick to a low-protein diet, alongside supplementation of the essential and non-essential amino acids that our bodies need to function properly.

Improve the early prognosis of affected infants and children

Early diagnosis of IEMs is a prerequisite for effective treatment. Since 1997, Nutricia has supported the availability and regular updates of the famous ‘Vademecum Metabolicum’, a Metabolic handbook to help healthcare professionals diagnose and manage patients with rare metabolic diseases. The goal is to constantly raise awareness for rare metabolic disorders, help to make early diagnosis and decide for the right treatment to ultimately improve the prognosis of affected infants and children.

Supporting ongoing education in the IEM community

Continuing education for metabolic health care providers is core to our mission. Nutricia launched Danone Nutricia Campus a dedicated website to deliver free educational and learning content for healthcare professionals offering scientific and practical guidance on the importance of nutrition and health through the life span and patient care including educational offerings on the role of the nutrition in infants with IEMs.

  1. Nguengang Wakap, S., Lambert, D.M., Olry, A. et al. Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database. Eur J Hum Genet 28, 165–173 (2020). https://doi.org/10.1038/s41431-019-0508-0

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