Q1145. A 6 month old child started vomiting and ceased to gain weight. At 8 months, he had to be admitted to the hosipital. After one week, he started getting drowsy. He couldn’t tolerate feeding even by gastrostomy and had to be given intravenous glucose, following which he improved dramatically and came out of coma in 24 hours. Physical examination was normal, but his urine had high levels of glutamine and uracil, and increased levels of ammonia in blood. What is the enzyme defect he has?

Q1583. A breastfed infant presents with lethargy, hepatomegaly, and cataracts. Which enzyme deficiency is most likely responsible for this presentation?

Q1586. Which of the following acts as a major intracellular antioxidant and helps detoxify reactive oxygen species?

Q1814. A patient from a Mediterranean country visits Africa, where he develops malaria. He is treated

Q1879. An adolescent male patient presents to you with exercise intolerance. He gives a history of

Q1882. A child presents to you with anemia, thrombocytopenia, and bony pain. On examination,

Q2028. A young boy presents to the OPD with hypoglycemia and muscle cramps, on exertion or while

Q2031. A 4-year-old child presents with easy fatigability. The mother also complains that the child has

Q2383. Glucose transporter involved in insulin stimulated glucose transport is GLUT ?