Gaucher's disease
Gaucher’s disease is a genetic condition that occurs when a fatty substance called glucocerebroside is not able to break down into glucose and ceramide[1]. People suffering from Gaucher’s disease have a mutation in the GBA gene that is responsible for the synthesis of the enzyme called beta-glucocerebrosidase[2]. Without enough levels of this enzyme, undigested glucocerebrosidase is stored inside the macrophages and usually build up to a toxic level within the cell. As a result, tissues and organs are damaged and become unable to function normally.
There are determined three types of Gaucher’s disease. Type 1 is the most frequent one and usually does not affect the nervous system. It is also important to note that Gaucher’s disease is a rare disorder because it is inherited in an autosomal recessive manner which means that an individual must inherit two copies of the gene[3].
Symptoms
Symptoms of Gaucher’s disease include:
- Anemia
- Tiredness (fatigue)
- Pain in bones
- Increased size of liver and spleen
- Easy bruising
- Frequent bleeding[4].
References
- ↑ Gauchers Association. Gaucher disease: The most common lysosomal storage disorder. 2018 [cited December 5th, 2018]; Available from: https://www.gaucher.org.uk/about_gaucher
- ↑ National Library of Medicine. Gaucher disease. 2014 [cited December 5th, 2018]; Available from: https://ghr.nlm.nih.gov/condition/gaucher-disease
- ↑ Stoppler MC. Gaucher Disease. 2018 [cited December 5th, 2018]; Available from: https://www.medicinenet.com/gaucher_disease/article.htm#gaucher_disease_facts
- ↑ Stoppler MC. Gaucher Disease. 2018 [cited December 5th, 2018]; Available from: https://www.medicinenet.com/gaucher_disease/article.htm#gaucher_disease_facts