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Hereditary metabolic disorders form a large group of more than 1,400 rare disorders in which an error in the DNA causes abnormalities in the process in which proteins, fats and carbohydrates are converted into smaller building materials and energy. Affected individuals have lifelong physical and cognitive impairments, often the conditions are progressive. Scientific research is essential to increase our understanding of the disease mechanisms of these disorders. Knowledge about the disease mechanisms can potentially be used to develop therapies that allow patients to be treated better in the future, and ultimately make these disorders eligible for inclusion in the heel prick screening. This scientific study uses the patient's blood, urine and, if possible, cerebrospinal fluid and fibroblasts.
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