Biochemistry 11: Nucleotide Metabolism and Associated Diseases Quiz

Nucleotide Metabolism

• Purine nucleotides undergo degradation, a process crucial for maintaining cellular homeostasis

Diseases Associated with Purine Degradation

• Gout: a metabolic disorder caused by the accumulation of uric acid crystals in joints, resulting in inflammation and pain
• Adenosine deaminase deficiency: a genetic disorder that impairs the breakdown of adenosine, leading to severe combined immunodeficiency

Pyrimidine Metabolism

• Pyrimidine synthesis and degradation are critical processes in nucleic acid metabolism
• Pyrimidine synthesis occurs de novo, using aspartate, glutamine, and CO2 as precursors
• Pyrimidine degradation involves the breakdown of pyrimidine nucleotides to urea, CO2, and ammonia

Orotic Aciduria

• A rare genetic disorder characterized by the excretion of orotic acid in the urine
• Caused by a deficiency of the enzyme orotidylic acid decarboxylase
• Symptoms include megaloblastic anemia, intellectual disability, and cardiac problems

Antineoplastic Drugs

• Chemotherapeutic agents used to treat cancer by inhibiting nucleotide synthesis and degradation
• Examples include 5-fluorouracil, cytarabine, and gemcitabine, which target pyrimidine metabolism and DNA synthesis