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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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Gaucher Disease and Treatment Explanation

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Gaucher Disease and Treatment Explanation

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Structure of Glucocerebrosidase with Catalytic Sites

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Structure of Glucocerebrosidase with Catalytic Sites

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catalytic sites are highlighted

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Enzyme called glucocerebrosidase is needed to break and recycle glucocerebroside

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>They are essential building blocks synthesized by complex molecular pathways and deposited as lipid droplets in cells
>Evolutionary conserved organelles found in almost all organisms  from bacteria to mammals
>They are composed of neutral lipid core surrounded by a phospholipid monolayer membrane with various decorating proteins, which 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.

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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: causes serious medical problems beginning in infancy
>Type 3: Progresses more slowly than type 2

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Proper explanation