Neurometabolic Disease
Under the generic term neurometabolic diseases ( systemic metabolic disorders with partially or exclusively neuropsychiatric symptoms ) a number of metabolic diseases are summarized in medicine, which are noticeable in the clinical picture due to the involvement of the central nervous system . The frequency of occurrence is about 1: 500, they are often counted among the neuropsychiatric syndromes . The symptoms are partly similar to those of psychogenic ("mental") disorders and can easily be confused with them.
diagnosis
In addition to a thorough anamnesis and the evaluation of the clinical findings, the diagnosis is made through special laboratory tests (e.g. selective metabolic screening, special tests of body fluids and body tissues ).
In childhood, neurometabolic diseases are a common cause of the development of epilepsy , so that conversely, in children with cerebral seizures, the possibility of a neurometabolic disease should also be considered.
Examples
There are a wide variety of neurometabolic diseases. Examples include:
- Adrenoleucodystrophy
- Type I glutaric aciduria
- Glycosylation disorders
- Fabry disease
- Gaucher's disease
- Neurotransmitter disorders
- Disorders of the kynurenine metabolism
- Pyruvate carboxylase deficiency
- Pyruvate dehydrogenase deficiency
