Metabolism of Phenylalanine and Tyrosine with Biological and Clinical significance
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Quick Revision Series
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
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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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
Key Terminologies and Concepts in Genetics For Easy Reference
Table 1- Basic Genetic Concepts Term Definition Example/Notes Gene A segment of DNA that encodes for a protein or RNA. BRCA1 gene for DNA repair. Allele A variant form of a gene. Dominant (A) or recessive (a). Locus The specific physical location of a gene or DNA sequence on a chromosome. The CFTR gene is
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Fructose and Galactose metabolism- Multiple-choice questions with explanations
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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Ammonia Disposal – Short-answer questions
Question 1: What is the primary function of the urea cycle in humans? Answer: The urea cycle converts ammonia, a highly toxic byproduct of amino acid metabolism, into urea, a less toxic compound that can be safely excreted in urine. This process is vital for maintaining nitrogen balance in the body. Question 2: Which cellular
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Fatty acid oxidation and TG breakdown- Short answer questions
Question 1: Why are triglycerides a more efficient energy storage form compared to glycogen? Answer: Triglycerides are highly reduced and stored in a nearly anhydrous form, yielding about 9 kcal/g upon complete oxidation. In contrast, the polar nature of glycogen leads to greater hydration, reducing its energy storage capacity to about 1/6th that of fat.
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