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An autosomal recessive inherited disorder of metabolism where a type of fat (lipid) called glucocerebroside cannot be adequately degraded.

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●Normally the body makes an enzyme called glucocerebrosidase that breaks down and recycles glucocerebroside - a normal part of the cell membrane.
But...
●People who have Gaucher's disease do not make enough glucocerebrosidase. This causes the specific lipid to build up in the liver, spleen, bone marrow and nervous system interfering with normal functioning.

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Type 1- The most common, does not affect the nervous system and may appear early in life or adulthood.
Type 2 - does affect the nervous system. And, causes serious medical problems beginning in infancy, while
Type 3 -  progresses more slower than type 2

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Symptoms vary greatly among those who have the disorder. The major clinical symptoms include:

>Enlargement of the liver and spleen (hepatosplenomegaly)
>A low number of red blood cells (Anaemia)
>Easy bruising caused, in part, by a low level of platelets (thromocytopenia)
>Bone disease (Bone pain and fractures)

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Lipids are essential building blocks synthesized by complex molecular pathways and deposited as lipid droplets in cells.

●Lipid droplets are evolutionary conserved organelles found in almost all organisms, from bacteria to mammals.

●They are composed of a hydrophobic neutral lipid core surrounded by a phospholipid monolayer membrane with various decorating proteins.

●These organelles regulate the storage and hydrolysis of neutral lipids and are found largely in the adipose tissue.

●They also serve as a reservoir for cholesterol and acyl-glycerol for membrane formation and maintenance.