Question

This disease presents with a cherry red spot on the macula and hepato·spleno·megaly, unlike Tay-Sachs disease. For 10 points each:
[10h] Name this group of doubly eponymous diseases caused by an absence of an enzyme that hydrolyses its substrate to ceramide and phosphocholine.
ANSWER: Niemann-Pick disease
[10e] The enzyme missing in Niemann-Pick disease hydrolyses the ‘sphingo-’ form of this lipid-rich material that forms sheaths around the axons of nerve cells.
ANSWER: myelin
[10m] Sphingomyelinase is found in these organelles that contain a variety of enzymes to break down waste products of the cell.
ANSWER: lysosomes

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Summary

2023 UMN COOT08/19/2023Y120.00100%100%0%

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