A metabolic disorder is an inherited disorder which causes substances in the cells of the human body to be processed less well.
In some cases, the enzymes responsible for regulating the body's metabolism are missing. In other cases, the enzymes are present, but function incompletely.
The particular substance or waste product may accumulate and this leads to complaints. Waste products may accumulate in cells, tissues and organs.
When the waste product accumulates in the brains, brain cells may die and this can cause neurological disorders. These diseases belong to the group of acquired brain injury (ABI). Developmental Disorders (cognition), speech retardation, vision problems, difficulties in motor function or epilepsy occurring in patients may be a reason to investigate whether there is a metabolic disorder.
Some metabolic diseases give symptoms immediately after birth, but it is also possible that a metabolic disease manifests itself after a few years or even in adulthood. There are metabolic diseases in which symptoms remain limited if the person follows a diet. Some metabolic diseases gradually give more serious complaints. The disease is progressive.
A progressive metabolic disease can cause someone to die.
Currently, we are working on pages on metabolic diseases causing brain injury. This will take some time.
For the time being, we refer to the following information about these disorders.
- Wikipedia page on ALD
- Facts on ALD
- NCBI on glutaric aciduria type 1
- Wikipedia page on glutaric aciduria type I
- Wikipedia page on glutaric aciduria type II
- MLD metachromatic leukodystrophia
- Vitamin B6
- Walker Warburg Syndrome
- Wikipedia on Walker Warburg