Vitamin Deficiencies and Impairments in Carbohydrate Metabolism

Quick Revision Series /

  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

Genetiics /

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)

Genetiics, Short-answer Questions, USMLE styled question bank /

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

Genetiics, Quick Revision Series /

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

Practice questions, USMLE styled question bank /

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

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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Fructose and Galactose metabolism- Multiple-choice questions with explanations

Practice questions, Quick Revision Series, USMLE styled question bank /

1. An exclusively breast-fed infant presents with vomiting, weight loss, jaundice, hepatomegaly, and bilateral cataracts. Which condition is most likely responsible for these symptoms? A. Breast milk jaundice B. Classical Galactosemia C. Hereditary fructose intolerance D. Type 1 Diabetes mellitus E. Von Gierke’s disease Correct Answer: B. Classical Galactosemia Explanation: Classical galactosemia is a rare

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Fructose and Galactose metabolism- Short-answer questions

Short-answer Questions /

Question 1: What are the two ways fructose exists in food? Answer: Fructose exists in food as a monosaccharide (free fructose) or as a unit of a disaccharide (sucrose). Question 2: What is the name of the transporter protein responsible for fructose absorption in the intestine? Answer: Fructose absorption in the intestine occurs via facilitated

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