Galactose Metabolism and Disorders
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Questions and Answers

What is the primary function of galactokinase in galactose metabolism?

  • To convert UDP-galactose back to galactose-1-phosphate
  • To phosphorylate galactose to galactose-1-phosphate (correct)
  • To hydrolyze lactose into glucose and galactose
  • To transfer UMP to glucose-1-phosphate
  • Which enzyme catalyzes the formation of UDP-galactose from galactose-1-phosphate?

  • Glucomutase
  • Galactosyl transferase
  • Galactose-1-phosphate uridyl transferase (correct)
  • Lactase
  • What must happen to galactose-1-phosphate before it can enter the glycolytic pathway?

  • It must be reduced to glucose-1-phosphate
  • It must be phosphorylated by ATP
  • It must be converted to UDP-galactose (correct)
  • It must be converted to galactose
  • What is one potential outcome of UDP-galactose in metabolic pathways?

    <p>It can be utilized in the synthesis of glycoproteins (D)</p> Signup and view all the answers

    What is the fate of glucose-1-phosphate after being produced during the formation of UDP-galactose?

    <p>It is converted into glucose-6-phosphate for glycolysis (C)</p> Signup and view all the answers

    What enzyme is responsible for the conversion of UDP-Galactose to UDP-Glucose?

    <p>UDP-Galactose-4-epimerase (C)</p> Signup and view all the answers

    What is the primary cause of Galactosemia?

    <p>Defect in Galactose-1-Phosphate Uridyl Transferase (D)</p> Signup and view all the answers

    What mechanism leads to the symptoms of Galactosemia?

    <p>Accumulation of toxic by-products (D)</p> Signup and view all the answers

    What dietary intervention is recommended for patients with Galactosemia?

    <p>Galactose-free diet (D)</p> Signup and view all the answers

    What is the result of galactose accumulation in cells?

    <p>Formation of galactitol and osmotic swelling (A)</p> Signup and view all the answers

    What condition is associated with cataracts in Galactosemia?

    <p>Osmotic swelling from galactitol accumulation (A)</p> Signup and view all the answers

    What is the outcome regarding mental retardation in Galactosemia treatment?

    <p>Partial symptom reversal (C)</p> Signup and view all the answers

    Which molecule is formed when galactose is reduced inside cells?

    <p>Galactitol (B)</p> Signup and view all the answers

    Flashcards

    Galactose Metabolism

    The breakdown of galactose, a sugar found in milk, into usable energy. It involves a series of enzymatic reactions that convert galactose into glucose, which can be utilized by the body.

    Lactase (Galactosidase)

    An enzyme that breaks down lactose (milk sugar) into glucose and galactose.

    Phosphorylation of Galactose

    The initial step in galactose metabolism, where galactose is converted into galactose-1-phosphate using ATP as the phosphate donor.

    UDP-Galactose

    An essential molecule in galactose metabolism that allows galactose to enter the glycolytic pathway. It is formed by transferring the phosphate from galactose-1-phosphate to UDP-glucose.

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    Galactose 1-phosphate uridyl transferase

    The enzyme responsible for the conversion of galactose-1-phosphate to UDP-galactose. It facilitates the transfer of a uridyl group from UDP-glucose to galactose-1-phosphate.

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    UDP-Galactose-4-epimerase

    UDP-Galactose-4-epimerase is an enzyme that catalyzes the interconversion of UDP-galactose and UDP-glucose.

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    Galactosemia

    Galactosemia is a genetic disorder where the body cannot properly break down galactose.

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    Primary Cause of Galactosemia

    The primary cause of galactosemia is a deficiency in the enzyme galactose-1-phosphate uridyl transferase.

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    Mechanism of Galactosemia

    Toxic by-products build up in the body due to the inability to process galactose, leading to various health problems.

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    Treatment of Galactosemia

    A galactose-free diet is the most effective way to manage galactosemia.

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    Reversal of Symptoms in Galactosemia

    A galactose-free diet can reverse most symptoms of galactosemia, but mental retardation may persist.

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    Cataracts in Galactosemia

    Cataracts can develop in individuals with galactosemia due to the accumulation of galactitol inside cells.

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    Galactitol

    Galactitol is a sugar alcohol produced from the reduction of galactose. Its accumulation can lead to osmotic swelling and the development of cataracts.

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    Study Notes

    Galactose Metabolism

    • Galactose is derived from lactose (milk sugar)
    • Lactose hydrolysis by lactase produces glucose and galactose
    • Glucose enters glycolysis
    • Galactose is phosphorylated to galactose-1-phosphate by galactokinase, using ATP as a phosphate donor
    • Galactose-1-phosphate can't enter glycolysis. It needs to be converted to UDP-galactose.
    • This conversion occurs via an exchange reaction involving UMP, transferring from UDP-glucose to galactose-1-phosphate, resulting in UDP-galactose.
    • The enzyme that catalyzes this reaction is galactose-1-phosphate uridyl transferase.
    • UDP-galactose can enter various synthetic pathways for glycoproteins and lactose.
    • UDP-galactose also gets epimerized into UDP-glucose by UDP-galactose 4-epimerase.
    • Galactosemia results from defects in galactose metabolism pathways.

    Specific Objectives

    • Students should be able to explain the metabolic pathway of galactose.
    • Students should be able to discuss disorders in galactose metabolism.

    Galactokinase Deficiency

    • Rare autosomal recessive disorder
    • Causes elevated galactose and galactosuria
    • Galactitol accumulation can cause cataracts
    • Treatment involves dietary restrictions.

    Classic Galactosemia

    • Autosomal recessive disorder (1 in 30,000 births)
    • Deficiency in galactose-1-phosphate uridyltransferase (GALT)
    • Accumulation of galactose-1-phosphate and galactitol in tissues like the liver, nerves, and lenses
    • Leads to liver damage, developmental delays, cataracts, and mental retardation.
    • Prenatal diagnosis and newborn screening are available.
    • Treatment involves a galactose-free diet.

    Cataracts in Galactosemia

    • Occurs due to galactose accumulation, converting to galactitol in cells, causing osmotic swelling.
    • The accumulation of galactose inside cells results in the formation of cataracts.

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    Description

    This quiz focuses on the metabolic pathways involved in galactose metabolism, derived from lactose. It covers the enzymatic processes, conversions to UDP-galactose, and associated disorders like galactosemia. Students will deepen their understanding of how galactose is processed within the body.

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