Information for Patients

Inborn Errors of Metabolism

In Germany, approx. 100,000 people suffer from a rare inborn error of metabolism; each of these diseases affects fewer than 2,000 persons. The term orphan diseases is distinctive; it is used to define diseases affecting small numbers of individuals who are often left behind when it comes to medical care. The purpose of the ASIM is to improve the medical treatment of these patients.

Various metabolic mechanisms can be affected, thus, widely differing diseases may occur.

  1. Disorders in Amino Acid Metabolism
    • phenylketonuria (PKU)
    • maple syrup urine disease (MSUD)
    • tyrosinaemia
    • homocystinuria
  2. Lysosomal Storage Diseases
    • Gaucher disease, (more details on) Gaucher disease
    • Morbus Fabry
    • mucopolysaccharidosis
    • Pompe disease (GSD type 2)
    • beta-oxidation disorders
      • MCAD deficiency
      • LCHAD deficiency
      • VLCAD deficiency
  3. Inborn Errors of Carbohydrate Metabolism
    • glycogenoses (Glycogen storage disease)
    • galactosaemia
    • hereditary fructose intolerance
    • inborn errors of lipid metabolism
      • familial hypercholesterolemia
      • chylomicronemia
  4. Disorders of Copper or Iron Transport (Hemochromatosis, Wilson disease)
  5. Porphyrias
  6. Defects in the Carnitine Cycle, Urea Cycle Disorders, Mitochondrial Diseases, Organo-Aciduria
  • and many more inborn errors of metabolism