Essential Vitamins in Metabolism: Impacts on Fatty Acid, Triglyceride, and Nucleotide Pathways

Table 1: Fatty Acid and Triglyceride Metabolism Vitamin Impaired Reaction Enzyme Affected Consequence Riboflavin (B2) β-oxidation of fatty acids Acyl-CoA dehydrogenase Reduced ATP production from fats Niacin (B3) β-oxidation of fatty acids Hydroxyacyl-CoA dehydrogenase Energy generation from fats reduced Triglyceride synthesis Glycerol-3-phosphate dehydrogenase Impaired triglyceride formation Biotin Fatty acid synthesis Acetyl-CoA carboxylase Disrupted synthesis of […]

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Vitamin Deficiencies and Impairments in Amino Acid Metabolism

  Vitamin Impaired Reaction Enzyme Affected Reaction Catalyzed Pathway/Consequence Vitamin B6 (PLP) Transamination of amino acids Aminotransferases (e.g., ALT, AST) Alanine + α-Ketoglutarate ↔ Pyruvate + Glutamate Impaired amino acid catabolism and gluconeogenesis Conversion of glutamate to γ-aminobutyric acid (GABA) Glutamate decarboxylase Glutamate → GABA + CO₂ Impaired neurotransmitter synthesis Conversion of homocysteine to cystathionine

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Vitamin Deficiencies and Impairments in Carbohydrate Metabolism

  Vitamin Impaired Reaction Enzyme Affected Reaction Catalyzed Pathway/Consequence Thiamine (B1) Conversion of pyruvate to acetyl-CoA Pyruvate dehydrogenase (E1 component) Pyruvate + CoA + NAD⁺ → Acetyl-CoA + NADH + CO₂ Impaired entry of pyruvate into the TCA cycle, lactic acid buildup Conversion of α-ketoglutarate to succinyl-CoA α-Ketoglutarate dehydrogenase α-Ketoglutarate + NAD⁺ + CoA →

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Genetics- Chromosomal disorders, Mitochondrial inheritance, and Population Genetics

1. A scientist is analyzing a pedigree chart to understand the inheritance pattern of a particular disease. Which of the following features in the pedigree chart strongly suggests mitochondrial inheritance? A. Affected males transmit the disease to all their offspring B. The disease appears to skip generations. C. Affected females transmit the disease to all

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Genetics- Practice question series- Set 1- Single gene disorders (short-answer questions)

Question 1: What is the definition of a single-gene disorder? Answer: Single-gene disorders are genetic conditions caused by mutations in a single gene. They can follow autosomal dominant, autosomal recessive, or X-linked inheritance patterns. Question 2: Name two examples of autosomal dominant single-gene disorders. Answer: Examples include Huntington’s disease and Marfan syndrome. Question 3: What

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Comprehensive Guide to Single-Gene Disorders: Categorized by Inheritance Patterns with Easy Mnemonics

Table 1: Autosomal Recessive (AR) Disorders Mnemonic: “Can People Stop Talking While Cooking Toast And Fries?” Letter Disorder Clinical features C Cystic Fibrosis (CF) Thick mucus, lung infections, salty sweat. P Phenylketonuria (PKU) Intellectual disability, musty odor. S Sickle Cell Anemia Pain crises, anemia, malaria resistance. T Tay-Sachs Disease Neurodegeneration, cherry-red macula. W Wilson’s Disease

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Nucleotide metabolism-Multiple-choice questions with explanations

Question 1: A 3-month-old male infant presents with delayed motor development and orange, sand-like crystals in his diaper. His parents report he constantly chews on his fingers and lips, causing bleeding. Based on these symptoms, what is the most likely diagnosis? A. Adenosine deaminase deficiency B. Gouty arthritis C. Lesch-Nyhan Syndrome D. Orotic aciduria E.

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Nucleotide metabolism- Short-answer questions

Question 1: What is the initial step in the synthesis of both purine and pyrimidine nucleotides? Answer: The initial step in the synthesis of both purine and pyrimidine nucleotides is the synthesis of PRPP (5-phosphoribosyl-1-pyrophosphate) from D-ribose-5’-P. Question 2: What is the significance of Mycophenolic acid in purine nucleotide biosynthesis? Answer: Mycophenolic acid is an

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