EASE THE SQUEEZE TRUST

WHAT ARE METABOLIC DISEASES?

Metabolic disease can occur at any age from the newborn period right through the age ranges. It can affect any organ system. The severity can be variable. Metabolic diseases are incredibly rare and most often, no one has ever heard of them. Often people struggle for months searching for a diagnosis, only to find that there is no treatment for their diagnosis.

Metabolic diseases are rare, genetic (inherited) diseases which result in the body’s inability to break down chemicals for maintenance and energy. When things don’t work properly, there is a build up of a chemical, and when it builds up too much – it becomes toxic and destroys the cell. When multiple cells die, it causes parts of the body to malfunction. Completely “normal” children suddenly start to loose skills, parents and teachers start to notice changes in their behaviour or a loss of coordination ma be observed. Any body organ at any age can be affected.

​

The first metabolic disease was diagnosed in 1908 by Sir Archibald Garrod. Since then the number of known diseases has exploded to many hundreds of different diseases all falling under the umbrella of metabolics. Metabolics is a constantly evolving field because of advances in the way these diseases are diagnosed. Looking at all the different genes individually and searching for a mutation (a spelling mistake causing the gene to malfunction resulting in disease) is called whole genome and whole exome sequencing. This has enabled rapid diagnosis of diseases in the metabolic sector.