List of top Biochemistry Questions asked in NEET PG

A 23-year-old female with a height of 4 feet has a karyotype, as shown in the image below. Which of the following conditions is the most likely etiology? 

A patient with multiple tendon xanthomas is found to have a serum cholesterol level of 398 mg/dL and an LDL level of 220 mg/dL. What is the most likely defect?
A patient presents with xanthomas on the Achilles tendon. Which of the following is the most likely diagnosis?
A child presents with bone pain and hepatosplenomegaly. A trephine biopsy and aspirate show the following finding. Which of the following is the most likely enzyme deficient in this condition?
A trephine biopsy and aspirate
A child presents with mental retardation, bone pain, and inability to walk. On funduscopic examination, a cherry red spot is seen. There is no organomegaly. What is the most likely diagnosis?
A child presents with thinning of hair and scaling of the scalp. On taking further history, it is found that she consumes raw eggs in her diet regularly. The given manifestations are due to the deficiency of which of the following vitamins?
An infant is brought by his parents with complaints that his urine turns black on standing. Which of the following metabolic disorders is likely?
Which of the following is seen in low insulin: glucagon ratio?
A patient presenting with bleeding gums and easy bruisability was diagnosed with scurvy. This is due to
A child presents with erythematous scaly patches in the perioral region, mucosal ulcers, and impaired epithelial wound healing. The most likely mineral deficiency associated with this condition is?
A chronic alcoholic patient is diagnosed with gouty arthritis. What biochemical changes will be seen in this patient?
A child was bought with pedal edema and cheilosis. Cardiomegaly was present. What is the vitamin deficiency associated with this clinical presentation?
A 4-year-old child presents with easy fatigability. The mother also complains that the child has increased hunger between meals, which is relieved after food. Liver examination revealed no glycogen. The enzyme most likely deficient is?
A chronic alcoholic patient presented to the casualty with confusion, ataxia, and painful eye movements. What could be the vitamin deficiency seen in this patient?
A family consumes only polished rice. Which of the following combinations of vitamin deficiency and enzymatic defect will be present in this family?
A young boy presents to the OPD with hypoglycemia and muscle cramps, on exertion or while playing. Then he becomes normal after resting for a while. These episodes are recurrent after a period of activity. He has decreased serum lactate and glucose levels. Which of the following diseases is he most likely to be suffering from?
A patient presented with diarrhea, dermatitis, and dementia. Which of the following vitamin deficiencies would you suspect in this patient?
Which of the following clotting factors is needed for gamma-glutamyl carboxylase?
The electron transport chain is a series of redox reactions that result in ATP synthesis. Which of the following is a cytochrome complex IV inhibitor?
A child presents to you with anemia, thrombocytopenia, and bony pain. On examination, hepatosplenomegaly was noticed. If light microscopy of bone marrow aspirate reveals “crumpled tissue paper” appearance, what is the enzyme defect?
The following is due to the deficiency of?
due to the deficiency of Vitamin A
Which of the following enzyme activities can be estimated in red blood cells to diagnose vitamin B2 deficiency?

An adolescent male patient presents to you with exercise intolerance. He gives a history of developing cramps on exertion. Which of the following enzyme deficiencies could be the cause? 

DNA packing is done by which of the following?
A single mutation in a nucleotide base pair resulting in a termination codon is known as ________?