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Biochemistry Carbohydrates a925f737

Which of the following disease occurs due to the deficiency of glucocerebroside?

A
Gaucher disease
B
Pompe disease
C
Fabry disease
D
Krabbe disease
High-Yield Explanation
Ans: a (Gaucher disease) Ref: Vasudevan and Sreekumari, 4th ed.Gaucher disease is due to lack of glucocerebroside and substance accumulating is glucosyl ceramide.Lysosomal storage disorders/ sphingolipidosis/ lipid storage diseases:Disease Enzyme deficientSubstance accumulating * Pompe diseasea glucosidase (acid maltase)glycogen* Gaucher diseaseb glucocerebrosidaseglucosyl ceramide (cerebroside)* Fabrya galactosidaseglobotriaosyl ceramide (ceramyl trihexoside)* Krabbeb galactosidasegalactosyl ceramide* Niemann-Pick diseaseSphingomyelinaseGM1 gangliosidosis Glycogen storage disordersEnzyme deficient* Type I Von GirkeGlucose 6 phosphatase* Type II Pompe diseasea glucosidase* Coris (Forbes)Debranching enzyme* AndersonBranching enzyme* Me ArdleMuscle phosphorylase* Type IV Her diseaseLiver phosphorylase

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