February 7, 2024

Unlocking the Mysteries of Medical Biochemistry: A Challenging Quiz

Posted on February 7, 2024  •  40 minutes  • 8383 words  • Other languages:  Русский
Table of contents

Welcome to “Unlocking the Mysteries of Medical Biochemistry: A Challenging Quiz”! This quiz is crafted for those passionate about the intricate world of medicine and biochemistry. It offers a deep dive into the biochemical basis of diseases, exploring how genetic conditions, enzyme deficiencies, and vitamin imbalances can lead to specific medical symptoms and diagnoses. Whether you’re a medical student, a practicing healthcare professional, or simply a science enthusiast, this quiz will challenge your knowledge, sharpen your critical thinking skills, and enhance your understanding of the fundamental processes that drive human health and disease. Ready to test your knowledge and learn something new? Let’s get started!

1. A patient presents with severe muscle weakness and fatigue that improves with rest. Laboratory findings show antibodies against acetylcholine receptors. Which biochemistry knowledge helps in understanding the pathophysiology of this condition?

A) Glycolysis and its role in muscle contraction
B) Signal transduction in neuron-to-muscle communication
C) The role of steroids in inflammation
D) Lipid metabolism and its impact on cell membrane fluidity

A) DNA repair mechanisms during cell replication
B) Signal transduction in T-cell receptor (TCR) complex
C) Glycolysis in leukocytes
D) Cholesterol synthesis in liver cells

3. A patient presents with recurrent kidney stones and peptic ulcers. Laboratory tests reveal elevated serum calcium and gastrin levels. Which enzyme’s aberrant expression is most likely contributing to these symptoms?

A) Carbonic anhydrase
B) Glucokinase
C) Phosphofructokinase
D) Gastric H+/K+ ATPase

4. A patient with a history of alcohol abuse presents with hypoglycemia and lactic acidosis. Which metabolic pathway’s impairment is most directly responsible for these findings?

A) Gluconeogenesis
B) Beta-oxidation of fatty acids
C) Oxidative phosphorylation
D) Urea cycle

5. A patient with stiffness and muscle spasms has elevated levels of antibodies against voltage-gated calcium channels. Which process in neurotransmitter release is most affected by these antibodies?

A) Reuptake of neurotransmitters by the presynaptic neuron
B) Synthesis of neurotransmitters in the neuronal cell body
C) Packaging of neurotransmitters into vesicles in the presynaptic terminal
D) Fusion of neurotransmitter-containing vesicles with the presynaptic membrane

A) Protein folding and trafficking within cells
B) Enzyme kinetics and substrate specificity
C) Lipid bilayer permeability and ion channels
D) Nucleotide metabolism and DNA replication

7. A patient with a history of sun sensitivity and blistering skin lesions is diagnosed with porphyria. Which biochemical pathway’s dysfunction is most closely associated with this condition?

A) Glycolysis and ATP production
B) Heme biosynthesis
C) Fatty acid oxidation
D) Amino acid catabolism

8. A patient presents with severe anemia and jaundice. Laboratory tests reveal increased unconjugated bilirubin and a history of rapid red blood cell destruction. Which enzyme deficiency is most likely responsible for these symptoms?

A) Glucose-6-phosphate dehydrogenase (G6PD)
B) Hexokinase
C) Pyruvate kinase
D) Cytochrome c oxidase

9. A patient with chronic fatigue and muscle weakness is found to have hyperkalemia and metabolic acidosis. Which enzyme abnormality is most likely associated with these findings?

A) Acetyl-CoA carboxylase
B) 21-hydroxylase
C) Creatine kinase
D) Alanine aminotransferase

10. An infant presents with failure to thrive, intellectual disability, and musty body odor. Which metabolic disorder’s biochemical pathway is implicated in these symptoms?

A) Glycogen storage disease
B) Phenylketonuria (PKU)
C) Maple syrup urine disease
D) Medium-chain acyl-CoA dehydrogenase deficiency (MCADD)

11. A patient presents with muscle cramps and dark urine following strenuous exercise. Laboratory tests reveal myoglobinuria. Which metabolic condition could most directly contribute to these symptoms?

A) McArdle’s disease (glycogen storage disease type V)
B) Carnitine palmitoyltransferase II deficiency
C) Mitochondrial myopathy
D) Pyruvate dehydrogenase deficiency

12. A patient with progressive neurological decline and accumulation of cherry-red spots on the macula is diagnosed with a lysosomal storage disease. Which enzyme deficiency is most likely responsible for this condition?

A) Alpha-galactosidase A
B) Hexosaminidase A
C) Glucocerebrosidase
D) Phenylalanine hydroxylase

13. A patient is diagnosed with rickets characterized by bone pain and deformities. Which vitamin’s metabolism is most directly implicated in the development of this condition?

A) Vitamin A
B) Vitamin C
C) Vitamin D
D) Vitamin E

14. A newborn exhibits failure to thrive, developmental delay, and a “sweaty feet” odor. Which metabolic pathway’s defect is most likely at the root of these symptoms?

A) Urea cycle
B) TCA cycle
C) Branched-chain amino acid catabolism
D) Glycolysis

15. A patient with prolonged bleeding time after minor cuts and a family history of similar symptoms is likely suffering from a deficiency in which of the following proteins?

A) Insulin
B) Hemoglobin
C) Factor VIII
D) Albumin

16. A patient presents with numbness and tingling in their extremities, along with fatigue and difficulty walking. Blood tests reveal megaloblastic anemia. Which vitamin deficiency is most directly involved in the pathophysiology of these symptoms?

A) Vitamin A
B) Vitamin B12
C) Vitamin C
D) Vitamin K

17. A child presents with hepatomegaly, fasting hypoglycemia, and growth retardation. A deficiency in which enzyme is most likely at the root of these symptoms?

A) Glucose-6-phosphatase
B) Pyruvate kinase
C) Glucokinase
D) Phosphofructokinase-1

18. An adult patient exhibits high blood pressure, low potassium levels, and an abnormal increase in hair growth. These symptoms suggest an excess production of which hormone?

A) Insulin
B) Aldosterone
C) Cortisol
D) Thyroxine

19. A newborn is found to have cataracts, along with failure to thrive and developmental delays. Which disorder of carbohydrate metabolism is most likely responsible?

A) Galactosemia
B) Fructose intolerance
C) Lactose intolerance
D) Diabetes mellitus

20. A patient with recurrent kidney stones is found to have hyperuricemia. Which enzymatic defect is most likely associated with this condition?

A) Xanthine oxidase
B) HGPRT (Hypoxanthine-guanine phosphoribosyltransferase)
C) Glucose-6-phosphate dehydrogenase
D) Adenine phosphoribosyltransferase

21. A patient with chronic pancreatitis is found to have malabsorption syndrome, particularly fat malabsorption. Which vitamin deficiency is most likely contributing to night blindness in this patient?

A) Vitamin A
B) Vitamin B12
C) Vitamin C
D) Vitamin D

22. A patient presents with bronze pigmentation of the skin, diabetes mellitus, and joint pain. Laboratory tests reveal elevated serum ferritin levels. Which genetic disorder is most likely responsible for these symptoms?

A) Wilson’s disease
B) Hemochromatosis
C) Alpha-1 antitrypsin deficiency
D) Cystic fibrosis

23. A child with intellectual disability, gait disturbance, and a history of self-injurious behavior has elevated uric acid levels in the blood. This presentation is most consistent with a defect in which of the following metabolic pathways?

A) Purine salvage pathway
B) Pyrimidine synthesis
C) Glycolysis
D) Urea cycle

24. A patient experiences recurrent episodes of abdominal pain, peripheral neuropathy, and psychiatric disturbances. Urine analysis reveals elevated levels of porphobilinogen during an acute attack. Which enzyme deficiency is primarily involved in this condition?

A) Uroporphyrinogen III synthase
B) Porphobilinogen deaminase
C) Coproporphyrinogen oxidase
D) Ferroch


25. An infant presents with hypotonia, poor feeding, and delayed development. Plasma amino acid analysis shows elevated levels of leucine, isoleucine, and valine. Which dietary component should be restricted to manage this condition?

A) Fats
B) Simple sugars
C) Branched-chain amino acids
D) Purines

26. A patient presents with recurrent kidney infections, polyuria, and a strong family history of similar symptoms. Laboratory tests indicate reduced ability to concentrate urine. Which genetic condition is most likely affecting the kidney’s ability to concentrate urine?

A) Autosomal dominant polycystic kidney disease
B) Nephrogenic diabetes insipidus
C) Alport syndrome
D) Gitelman syndrome

27. A newborn is diagnosed with congenital hypothyroidism. Early treatment is crucial to prevent intellectual disability and stunted growth. Which component is essential in the synthesis of thyroid hormones and should be ensured in the diet?

A) Iron
B) Iodine
C) Zinc
D) Selenium

28. An adult patient presents with bone pain, muscle weakness, and elevated blood calcium levels. Imaging studies reveal multiple bone lesions. Which hormone’s dysregulation is most likely involved in the pathophysiology of these symptoms?

A) Parathyroid hormone (PTH)
B) Calcitonin
C) Thyroid-stimulating hormone (TSH)
D) Cortisol

29. A patient with a history of alcohol abuse presents with confusion, ophthalmoplegia, and ataxia. Which vitamin supplementation is most likely to rapidly improve these symptoms?

A) Vitamin A
B) Vitamin B1 (Thiamine)
C) Vitamin C
D) Vitamin E

30. A child is diagnosed with frequent infections, poor wound healing, and severe gingivitis. A dietary history reveals a lack of fresh fruits and vegetables. Which vitamin deficiency is primarily responsible for these symptoms?

A) Vitamin B12
B) Vitamin C
C) Vitamin D
D) Vitamin E


  1. Dr. Maximilian Thorne, M.D. in Immunology, City College of Medicine
  2. Dr. Isabella Hawthorne, Ph.D. in Molecular Genetics, State University

We extend our heartfelt gratitude to these dedicated professionals for their contributions to this educational endeavor. 💐 💖




Support us

Science Chronicle