If a child with a metabolic disorder is not treated promptly, the first symptoms often become apparent within a few months of birth. The specific symptoms vary depending on the type of metabolic disorder, but common signs include: neurological problems, muscle weakness, liver and kidney issues, growth retardation, and in severe cases, coma or death.
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General information
A metabolic disorder is a rare hereditary condition in which the body cannot process certain nutrients properly because a specific enzyme is deficient or absent. As a result, essential molecules, such as amino acids, cannot be broken down correctly, which disrupts the body's metabolism.
Metabolic disorders are often first identified through neonatal screening (the heel prick test). This initial screening is typically followed by further diagnostic procedures, such as blood and urine tests, genetic testing, and measurements of enzyme activity.
Following the results of the neonatal screening, your pediatrician or GP will contact you. They will refer you to a hospital that specializes in treating hereditary metabolic disorders. It is important to attend a consultation as soon as possible to establish a treatment plan. For many of these conditions, a low-protein diet is a long-standing and highly effective dietary treatment.
A low-protein diet consists of protein-restricted foods, supplemented with specific amino acid preparations to ensure the body receives enough of the other essential amino acids. Adhering strictly to this diet is crucial for maintaining good health and avoiding serious complications.
Diet and nutrition
On a low-protein diet, it is necessary to avoid protein-rich foods such as meat, fish, dairy, nuts, and legumes. Foods that are generally suitable include vegetables, fruit, and specially formulated low-protein products.
To maintain the diet long-term, it helps to plan your meals in advance. We also recommend seeking support from dietitians, family, friends, and patient support groups.
Yes, a general tip is to replace standard high-protein ingredients with special low-protein alternatives, such as Loprofin* products or other suitable substitutes.
*This platform is intended for patients or carers of patients who have been prescribed the Nutricia Loprofin product range by a Healthcare professional.
Specific Product: Loprofin is Food For Special Medical Purposes for the dietary management of proven phenylketonury and must be used under medical supervision.
Always follow the advice of your Healthcare Professional before making any changes to your diet.
Everybody’s low-protein diet is different. Always check with your dietitian regarding suitability of ingredients in recipes.
Always check allergens for individual ingredients and product labels.
Recipes
Our recipe page offers a wide range of ideas, from quick snacks to full dinner menus.
To save your favorite recipes, simply create an account and then click the heart icon next to each recipe you'd like to add to your list.
Blogs and support
Yes, there are several options available, including international Facebook groups and local patient organizations.
You can share your story by getting in touch through our contact page or by using the feature available on your profile.
You can find a collection of experience stories from others in the community on our blog page.
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