Q109. A child presents with elevated concentrations of phenylalanine. Phenylalanine hydroxylase activity is found to be normal. Which of the following coenzymes required for tyrosine metabolism could be deficient?

Q110. A 50-year-old man presents to the OPD with features of skeletal fluorosis. Examination reveals outward bending of both legs. Which of the following is NOT used in his management?

Q111. A boy presents with orange-colored tonsils and a family history of multiple cardiovascular-related deaths. Laboratory investigations show total cholesterol 80 mg/dL, triglycerides 146 mg/dL, HDL <5 mg/dL. Which of the following is the most likely diagnosis?

Q113. A 22-year-old college student flies to Leh at an altitude of 3700 m above sea level. She experiences nausea, mental confusion, and blurred vision. Which of the following is the underlying mechanism?

Q114. Under a hypothetical condition where blood glucose levels spike to 2-3 times the normal and are sustained at that level, what happens to insulin levels?

Q115. A 40-year-old woman who underwent ileal resection presents with features of anemia despite a good diet. Her RBC count is 2.8 million/mm³, and serum iron is 164 mcg/dL. Which of the following is most likely to be found in her?

Q116. What is the mechanism of action of pegloticase?

Q117. An 8-year-old boy presents to the OPD for evaluation of a subcutaneous xanthoma on his right elbow. His father recently died of a myocardial infarction. Laboratory investigations reveal total cholesterol of 480 mg/dL, triglycerides of 146 mg/dL, and LDL cholesterol of 300 mg/dL. Which of the following types of familial hypercholesterolemia is the most likely underlying condition?

Q119. A labourer was stuck in a tunnel for 5 days. Which of the following functions as the primary source of energy for the brain during this period?

Q120. A 70-year-old man presents with a fracture following trivial trauma. He also has perifollicular hemorrhages, lusterless hair, and dry skin. He is on an exclusive diet of toast and buns and has microcytic hypochromic anemia. Which of the following enzymes is most likely affected in this patient?

Q121. A frameshift mutation was introduced into the coding sequence of an mRNA. If this occurs at the 4th position in an mRNA with 900 nucleotides, which of the following is most likely to happen?

Q122. Which of the following molecular diagnostic tests is useful in syndromic conditions like meningitis?

Q123. A 10-year-old presents with multiple freckles and photosensitivity. Examination reveals two basal cell carcinomas on the face. Which of the following DNA repair mechanisms is defective?

Q124. A 10-year-old boy presents with coarse facial features, organomegaly, corneal opacity, and peripheral neuropathy. A deficiency of the enzyme alpha-L-iduronidase is found. Which of the following is accumulated in this condition?

Q125. A 7-month-old infant presents with developmental delay, seizures, and a cherry-red spot on fundoscopy. The mother has a history of abortion at 8 weeks. Genetic testing reveals a deficiency of hexosaminidase A. Which of the following accumulates in this condition?

Q131. Patient with facial pain and vesicles around mouth. Tzanck smear reveals multinucleate giant cells with intra-nuclear inclusions. What is the most likely causative agent?

Q132. A patient presents with pustular lesions on the hand. Gram stain of the smear reveals gram-positive organisms, and the culture shows MacFadyen's positive reaction. Which of the following is the most likely causative pathogen?

Q133. A patient with schizophrenia has been responding well to Haloperidol for the past 2 years. He now presents with orofacial dyskinesia, choreiform, tic-like movements, and possible dystonia. What is the likely diagnosis and treatment of this condition?