KROK 1 2016 – Question 143 · KROK (Medicine) · Biological Chemistry
A 3-year-old girl with mental retardation has been diagnosed with sphingomyelin lipidosis (Niemann-Pick disease). In this condition synthesis of the following substance is disrupted:
- A. Sphingosine
- B. Gangliosides
- C. Glycosyltransferase
- D. Sphingomyelinase
- E. Ceramides
Hint
Ask what the primary defect is in a lysosomal storage disorder and which compound accumulates as a result.
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