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Gaucher's disease

2018-12-05T14:39:11Z

180594456:

'''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 [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.

     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>.

 

=== '''Symptoms:''' ===

Symptoms of Gaucher’s disease include:

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

 

=== References: ===

<references />

Gaucher's disease

2018-12-05T14:37:46Z

180594456:

'''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|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|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.

     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>.

 

=== '''Symptoms:''' ===

Symptoms of Gaucher’s disease include:

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

 

=== References: ===

<references />

Gaucher's disease

2018-12-05T14:37:09Z

180594456: Created page with "     '''Gaucher’s disease''' is a genetic condition that occurs when a fatty substance called glucocerebroside is not able to break down int..."

'''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|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|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.

     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>.

=== '''Symptoms:''' ===

Symptoms of Gaucher’s disease include:

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

=== References: ===

<references />