KROK 1 2008 – Question 147 · KROK (Medicine) · Biological Chemistry
A 6 year old child was delivered to a hospital. Examination revealed that the child couldn’t fix his eyes, didn’t keep his eyes on toys, eye ground had the cherry-red spot sign. Laboratory analyses showed that brain, liver and spleen had high rate of ganglioside glycometide. What congenital disease is the child ill with?
- A. Wilson’s syndrome
- B. Tay-Sachs disease
- C. Turner’s syndrome
- D. MacArdle disease
- E. Niemann-Pick disease
Hint
Think about a lysosomal storage disease in which a ganglioside accumulates because a hydrolytic enzyme is missing, causing loss of vision and a cherry-red macula.
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