Gaucher's disease

From The School of Biomedical Sciences Wiki
(Difference between revisions)
Jump to: navigation, search
 
Line 1: Line 1:
&nbsp; &nbsp; &nbsp;'''Gaucher’s disease''' is a genetic condition that occurs when a fatty substance called [[Glucocerebroside|glucocerebroside]] is not able to break down into [[Glucose|glucose]] and ceramide<ref>Gauchers Association. Gaucher disease: The most common lysosomal storage disorder. 2018 [cited December 5th, 2018]; Available from: https://www.gaucher.org.uk/about_gaucher</ref>.&nbsp;People suffering from Gaucher’s disease have a mutation in the [[GBA gene|GBA gene]] that is responsible for the synthesis of the enzyme called beta-glucocerebrosidase<ref>National Library of Medicine. Gaucher disease. 2014 [citied December 5th, 2018]; Available from: https://ghr.nlm.nih.gov/condition/gaucher-disease</ref>. 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.  
+
Gaucher’s disease is a genetic condition that occurs when a fatty substance called [[Glucocerebroside|glucocerebroside]] is not able to break down into [[Glucose|glucose]] and ceramide<ref>Gauchers Association. Gaucher disease: The most common lysosomal storage disorder. 2018 [cited December 5th, 2018]; Available from: https://www.gaucher.org.uk/about_gaucher</ref>. People suffering from Gaucher’s disease have a mutation in the [[GBA gene|GBA gene]] that is responsible for the synthesis of the enzyme called beta-glucocerebrosidase<ref>National Library of Medicine. Gaucher disease. 2014 [cited December 5th, 2018]; Available from: https://ghr.nlm.nih.gov/condition/gaucher-disease</ref>. 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.
  
<br>&nbsp; &nbsp; 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<ref>Stoppler MC. Gaucher Disease. 2018 [cited December 5th, 2018]; Available from: https://www.medicinenet.com/gaucher_disease/article.htm#gaucher_disease_facts</ref>.  
+
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<ref>Stoppler MC. Gaucher Disease. 2018 [cited December 5th, 2018]; Available from: https://www.medicinenet.com/gaucher_disease/article.htm#gaucher_disease_facts</ref>.  
  
<br>
+
=== Symptoms ===
  
=== '''Symptoms:'''  ===
+
Symptoms of Gaucher’s disease include:
  
Symptoms of Gaucher’s disease include:  
+
#[[Anemia|Anemia]]
 +
#Tiredness (fatigue)
 +
#Pain in bones
 +
#Increased size of liver and spleen
 +
#Easy bruising
 +
#Frequent bleeding<ref>Stoppler MC. Gaucher Disease. 2018 [cited December 5th, 2018]; Available from: https://www.medicinenet.com/gaucher_disease/article.htm#gaucher_disease_facts</ref>.
  
<br>1. [[Anemia|Anemia]]<br>2. Tiredness (fatigue)<br>3. Pain in bones<br>4. Increased size of liver and spleen<br>5. Easy bruising<br>6. Frequent bleeding<ref>Stoppler MC. Gaucher Disease. 2018 [cited December 5th, 2018]; Available from: https://www.medicinenet.com/gaucher_disease/article.htm#gaucher_disease_facts</ref><br>
+
=== References ===
 
+
<br>
+
 
+
=== References===
+
  
 
<references />
 
<references />

Latest revision as of 09:58, 8 December 2018

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:

  1. Anemia
  2. Tiredness (fatigue)
  3. Pain in bones
  4. Increased size of liver and spleen
  5. Easy bruising
  6. Frequent bleeding[4].

References

  1. Gauchers Association. Gaucher disease: The most common lysosomal storage disorder. 2018 [cited December 5th, 2018]; Available from: https://www.gaucher.org.uk/about_gaucher
  2. National Library of Medicine. Gaucher disease. 2014 [cited December 5th, 2018]; Available from: https://ghr.nlm.nih.gov/condition/gaucher-disease
  3. Stoppler MC. Gaucher Disease. 2018 [cited December 5th, 2018]; Available from: https://www.medicinenet.com/gaucher_disease/article.htm#gaucher_disease_facts
  4. Stoppler MC. Gaucher Disease. 2018 [cited December 5th, 2018]; Available from: https://www.medicinenet.com/gaucher_disease/article.htm#gaucher_disease_facts
Personal tools
Namespaces
Variants
Actions
Navigation
Toolbox