Inborn Errors of Metabolism · NEET PG Preparation Biochemistry
A 9-month-old infant is brought to the clinic for delayed developmental milestones and hypotonia. Examination reveals a 'cherry-red spot' on the macu…
Practice question from Inborn Errors of Metabolism (NEET PG Preparation Biochemistry), with the correct answer and a step-by-step solution.
hard · MCQ · Q-1F5413
A 9-month-old infant is brought to the clinic for delayed developmental milestones and hypotonia. Examination reveals a 'cherry-red spot' on the macula and an exaggerated startle response to acoustic stimuli (hyperacusis). Hepatosplenomegaly is notably absent. Which of the following enzyme deficiencies is the most likely cause?
- A.Sphingomyelinase
- B.Glucocerebrosidase
- C.Hexosaminidase ACorrect answer
- D.Alpha-galactosidase A
Solution
Tay-Sachs disease is caused by a deficiency of hexosaminidase A, leading to the accumulation of GM2 ganglioside in neurons. It presents with developmental regression, a cherry-red spot, and hyperacusis, but unlike Niemann-Pick disease, it does NOT feature hepatosplenomegaly.
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