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 a number 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), more details on Phenylketonuria
   • 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)
   • hemochromatosis, more details on Hemochromatosis
   • Wilson disease, more details on Wilson Disease
5. Porphyrias
6. Defects in the Carnitine Cycle, Urea Cycle Disorders, Mitochondrial Diseases, Organo-Aciduria
   • citrullinemia type II, more details on Citrullinemia Type II
   • ornithine transcarbamylase deficiency, more details on the urea cycle disorder Ornithine Transcarbamylase Deficiency

• and many more inborn errors of metabolism