Introduction
Metabolic disorders are rare, hereditary conditions that disrupt the body's metabolism. Metabolism is the crucial process of converting nutrients from food into usable energy and building materials.
In an individual with a metabolic disorder, this conversion process is impaired. This can lead to a harmful accumulation of some substances or a deficiency of others. The resulting symptoms depend on the specific type of metabolic disorder.
On this page:
What examination is carried out to make the diagnosis?
What are symptoms of metabolic disorders?
What is the (dietary) treatment for metabolic disorders?
What financial help will you receive?
What are metabolic disorders?
A metabolic disorder is a rare, hereditary condition in which the body cannot process certain nutrients properly. This occurs because a specific enzyme is either deficient or completely non-functional. As a result, essential molecules like amino acids cannot be broken down correctly, leading to a defect in metabolism. This can cause a harmful buildup or a deficiency of certain substances, resulting in a range of health problems, from mild symptoms to serious, life-threatening complications.
Managing a metabolic disorder typically requires a lifelong, specialized diet in which protein-restricted foods are supplemented with an amino acid formula. When dietary treatment instructions are followed carefully, a child can grow and develop well.
What is metabolism?
Metabolism refers to all the chemical processes within our cells that convert nutrients from food into energy and the building blocks our bodies need to function, grow, and heal.
What are enzymes?
Metabolism involves the constant conversion of substances within the body. Enzymes are specialized proteins that act as catalysts, enabling these chemical conversions to happen efficiently. Our bodies need many different enzymes to function.
What are amino acids?
Proteins can be pictured as long chains made up of individual links called amino acids. Before our bodies can use protein from food as a building material, it must first be digested into these individual amino acids. Humans require about twenty different types. While the body can produce some of these itself, others it cannot. The amino acids that we must obtain from our diet are called "essential amino acids." Examples include lysine, tryptophan, phenylalanine, leucine, isoleucine, threonine, methionine, and valine.
How are these disorders diagnosed?
These congenital conditions are typically diagnosed through the neonatal screening performed shortly after birth. The earlier a condition is detected, the sooner dietary treatment can begin.
What are symptoms of metabolic disorders?
If a metabolic disorder is not treated promptly, the first symptoms of developmental delay may become apparent after a few months. The specific symptoms depend on the type of metabolic disorder, but common signs can include:
- Neurological problems;
- Muscle weakness;
- Liver and kidney problems;
- Stunted growth;
In severe cases, a lack of treatment can lead to coma or death.
This is why early diagnosis and treatment are crucial to prevent permanent damage and life-threatening complications.
What is the (dietary) treatment for metabolic disorders?
Following the results of the neonatal screening, you will be contacted by the paediatrician at your child's birth hospital or by your GP. They will refer you to the nearest hospital that specializes in the treatment of metabolic disorders. It is important to attend a consultation there as soon as possible to begin the protein-restricted diet, which is the longest-standing and most effective dietary treatment for many of these conditions.
Based on calculated nutritional needs, a dietitian will develop a personalized diet plan, taking patient and family preferences into account as much as possible. For infants, this diet primarily consists of a special formula developed for their specific metabolic disorder, supplemented with breastfeeding where possible. After infancy, the diet expands to include protein-restricted solid foods alongside their amino acid formula.
The composition of this diet and the required amino acid formula must always be calculated individually by a dietitian specializing in metabolic disorders. This specialist considers the unique needs and medical condition of each patient to develop an optimal and effective diet plan.
