Metabolic diseases
If the body lacks certain important substances or produces, stores or retains too many of them, this interferes with the body's systemic circulation. This in turn can result in metabolic disorders and can negatively impact the regulatory processes of hormones. These are usually life-shortening hereditary diseases such as JNCL (Batten disease), MPS (mucopolysaccharidoses) and leukodystrophies.
Children who are born with a metabolic disorder initially appear to be perfectly healthy – after some time, however, sometimes months or years later, severe abnormalities emerge. They might lose their sight or hearing, gradually lose their motor skills such as walking and later even simple grasping. They often have vestibular and coordination disorders and eventually will no longer be able to speak and have very few facial expressions. The course of the disease is degenerative, which means that eventually the children are entirely dependent on outside help, sit in a wheelchair and only move involuntarily. The life expectancy of young people suffering from a metabolic disease depends on the disease and its course. Many sufferers, however, die in childhood or adolescence.