Questions and Answers
What is the primary metabolic issue in Galactosaemia?
What enzyme deficiency is associated with Galactosaemia?
Which sugar is specifically related to the condition of Galactosaemia?
What is the result of the enzyme deficiency in Galactosaemia?
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What is the primary function of the pentose phosphate pathway?
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In Galactosaemia, which of the following dietary components should be avoided?
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Which enzyme deficiency is recognized as the most common genetically determined enzyme deficiency?
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Which regions of the world have a higher prevalence of G6PD deficiency?
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What causes acute hemolytic episodes?
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How many people are estimated to be affected by G6PD deficiency globally?
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Which of the following compounds is crucial in the pentose phosphate pathway?
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What is the role of NADPH in red blood cells during acute hemolytic episodes?
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Which of the following conditions increases the risk of hemolysis in red blood cells?
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Which component in the body is primarily affected by reduced NADPH levels?
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What impact does a reduction in NADPH have on red blood cells?
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What is more common and serious in galactosemia?
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Which enzyme deficiency is related to non-classical galactosemia?
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What is NOT formed in non-classical galactosemia?
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What is a consequence of galactokinase deficiency?
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Which of the following conditions is characterized by serious accumulation in tissues?
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Which cofactor is required for the reaction mentioned?
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Which of the following cofactors acts catalytically in the reaction?
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How many cofactors are required for the reaction?
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Which cofactor is NOT mentioned as required for the reaction?
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What role do the cofactors FAD, thiamine pyrophosphate, and lipoic acid play in the reaction?
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Study Notes
Pentose Phosphate Pathway
- Central metabolic pathway that generates NADPH and ribose-5-phosphate for nucleotide synthesis.
- NADP is a critical coenzyme in the pathway, facilitating oxidation-reduction reactions.
- Nucleotides serve as building blocks for DNA and RNA synthesis.
Glucose 6-Phosphate Dehydrogenase Deficiency (G6PD Deficiency)
- Most common enzyme deficiency globally, affecting approximately 400 million individuals.
- Predominantly observed in populations from Africa, Southeast Asia, and the Mediterranean region.
- G6PD deficiency leads to impaired red blood cell function and increased susceptibility to oxidative stress.
Precipitating Factors of Acute Hemolysis
- Acute hemolytic episodes result from decreased NADPH levels, compromising red blood cell membranes.
- Chemicals that induce oxidative stress can exacerbate hemolysis in G6PD deficient individuals.
Galactosemia
- Classic galactosemia is caused by deficiency in enzymes such as galactose-1-phosphate uridyltransferase, leading to toxic accumulation of galactose and galactose-1-phosphate.
- Symptoms of galactosemia include liver damage, cataracts, and intellectual disability.
Non-Classical Galactosemia
- Rare condition caused by galactokinase deficiency leading to galactose accumulation without formation of galactose-1-phosphate.
- Characterized by galactosemia and galactosuria but typically less severe than classic galactosemia.
- Requires cofactors such as FAD, thiamine pyrophosphate, and lipoic acid for enzymatic reactions involved in galactose metabolism.
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Description
Test your knowledge on the Pentose Phosphate Pathway and its crucial role in synthesizing nucleotides, which are vital building blocks for DNA and RNA. Additionally, explore the implications of Glucose 6-phosphate dehydrogenase deficiency (G6PD) in metabolic processes. This quiz is designed to enhance your understanding of these fundamental biochemical concepts.
