The most common lysosomal storage disorder is
Correct Answer: Gaucher's disease
Description: Ans. (a) Gaucher's diseaseRef: Harper's Biochemistry, 30th ed. pg. 251LYSOSOMAL STORAGE DISEASE* Lyzosomal storage disorders are a group of approximately 50 rare inherited metabolic disorders that result from defects in lysosomal function.* Lysosomal storage disorders are caused by lysosomal dysfunction usually as a consequence of deficiency of a single enzyme required for the metabolism of lipids, glycoproteins (sugar containing proteins) or so-called mucopolysaccharides.* Gaucher's disease is the most common of the lysosomal storage diseases. It is a form of sphingolipidosis (a subgroup of lysosomal storage diseases), as it involves dysfunctional metabolism of sphingolipids.* The disorder is characterized by bruising fatigue, anemia, low blood platelets, and enlargement of the liver and spleen.
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Biochemistry
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