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1. A 15-year-old Indian female was referred to paediatrician after receiving dental care. On physical examination – she has stunted growth, coarse facial features, hepatomegaly and diminished vision because of corneal clouding. Past history reveals recurrent episodes of upper respiratory tract infection. Family history is nothing contributory. Urine analysis revealed increased traces of iduronite sulfate and dermatan sulfate. In which of the following subcellular structure the enzyme activity is defective?
2. 22-year-old lady who is planning for pregnancy, visits for the prenatal counselling. Both husband and wife are positive for sickle cell trait. Concerned with this, lady asks the consultant, what is the chance for her baby developing normally?
3. 18-year-old pregnant lady G2P0L0A1, complains of diminution of vision during the night and appearance of whitish plaque in the right eye. On general physical examination, shows rough hyper-keratinized skin. Deficiency of which micronutrient is suspected?
4. 32-year-old white girl complains of decreased vision in of both eyes. On examination, she has hypopigmentation of hair and the skin. She does not tan. There is no family history of ocular or skin abnormalities. Which enzyme study confirms the diagnosis?
5. 50 year-old-female, morbidly obese and diabetic is put on the Statin medication, which inhibits the cholesterol synthesis. There is family history of familial cholesterolemia. This medication competitively inhibits which enzyme?
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