A 6 year old mentally retarded male child patient presents with hepatosplenomegaly, coarse facial features, corneal clouding, large tongue, prominent forehead, joint stiffness, short stature and skeletal dysplasia. What is the enzyme deficient in this patient?
A 6 year old mentally retarded male child patient presents with hepatosplenomegaly, coarse facial features, corneal clouding, large tongue, prominent forehead, joint stiffness, short stature and skeletal dysplasia. What is the enzyme deficient in this patient?
💡 Explanation
A 6 year old mentally retarded male child patient presents with hepatosplenomegaly, coarse facial features, corneal clouding, large tongue, prominent forehead, joint stiffness, short stature and skeletal dysplasia. What is the enzyme deficient in this patient?
✓ Correct Answer: C. α-L- Iduronidase
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