Folate Absorption and Metabolism
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Questions and Answers

What is the primary cause of an increased need for folate?

  • Genetic disorder affecting folate metabolism
  • Poor dietary intake of folate
  • Excess cell turnover of any sort, including pregnancy (correct)
  • Malabsorption of folate
  • What is the rate-limiting step in DNA synthesis inhibited by folate deficiency?

  • Thymidylate synthesis (correct)
  • Deoxynucleoside triphosphate synthesis
  • Methylation of DNA
  • DNA polymerization
  • What is required for the demethylation of methyl THF?

  • Folate
  • Deoxynucleoside triphosphates
  • Thymidine monophosphate
  • Vitamin B12 (correct)
  • What is the result of a lack of B12 in the conversion of methyl THF?

    <p>Deprivation of cells of THF and dTMP</p> Signup and view all the answers

    What is the result of impaired DNA synthesis in megaloblastic anaemia?

    <p>Excess breakdown of haemoglobin</p> Signup and view all the answers

    What is the difference between folate deficiency and B12 deficiency?

    <p>Folate deficiency is caused by poor dietary intake, while B12 deficiency is caused by malabsorption</p> Signup and view all the answers

    What is the role of folate binding proteins in the absorption of folates?

    <p>They enhance the absorption of folates</p> Signup and view all the answers

    What is the laboratory diagnosis of megaloblastic anaemia?

    <p>All of the above</p> Signup and view all the answers

    What is a characteristic feature of the anaemia in vitamin B12 deficiency?

    <p>Macrocytic anaemia</p> Signup and view all the answers

    What is a distinguishing feature of megaloblastic anaemia caused by folate deficiency?

    <p>Low serum folate and low red cell folate</p> Signup and view all the answers

    What is a laboratory finding that suggests vitamin B12 deficiency?

    <p>Low serum B12 and high serum folate</p> Signup and view all the answers

    What is the term for disorders of abnormal haemoglobin synthesis?

    <p>Haemoglobinopathies</p> Signup and view all the answers

    What is a characteristic feature of the bone marrow in megaloblastic anaemia?

    <p>Hypercellular bone marrow</p> Signup and view all the answers

    What is a characteristic feature of the reticulocyte count in megaloblastic anaemia?

    <p>Low reticulocyte count</p> Signup and view all the answers

    What is a distinguishing feature of megaloblastic anaemia caused by vitamin B12 deficiency?

    <p>Low serum B12 and low red cell folate</p> Signup and view all the answers

    What is the term for a genetic disorder characterized by abnormal haemoglobin synthesis?

    <p>Haemoglobinopathy</p> Signup and view all the answers

    What is the characteristic abnormality of erythroblasts in the bone marrow in megaloblastic anaemia?

    <p>Maturation of the nucleus being delayed relative to that of the cytoplasm</p> Signup and view all the answers

    What is the primary cause of abnormal maturation of the nucleus in megaloblastic anaemia?

    <p>Defective DNA synthesis due to vitamin B12 deficiency</p> Signup and view all the answers

    What is the role of intrinsic factor in the absorption of vitamin B12?

    <p>It combines with vitamin B12 to form a complex that binds to a specific surface receptor</p> Signup and view all the answers

    What is the primary function of transcobalamin in the body?

    <p>To transfer vitamin B12 into cells of the body</p> Signup and view all the answers

    What is the most common cause of vitamin B12 deficiency?

    <p>All of the above</p> Signup and view all the answers

    How long does it take for vitamin B12 deficiency to develop due to severe malabsorption?

    <p>At least 2 years</p> Signup and view all the answers

    What is the difference between folate deficiency and vitamin B12 deficiency?

    <p>Folate deficiency affects only the nervous system, while vitamin B12 deficiency affects only the bone marrow</p> Signup and view all the answers

    What is the laboratory diagnosis of megaloblastic anaemia?

    <p>All of the above</p> Signup and view all the answers

    Study Notes

    Folate

    • Folate is a parent compound of folates, derived from pteroylglutamic acid.
    • Dietary folates are converted to methyl tetrahydrofolate (THF) during absorption in the upper small intestine.
    • Folate binding proteins on cell surfaces facilitate entry of reduced folates into cells.

    Folate Deficiency

    • Folate deficiency is often caused by poor dietary intake of folate or increased folate utilization.
    • Excess cell turnover, including pregnancy, increases the need for folate, as folate molecule degrades with increased DNA synthesis.

    Biochemical Basis for Megaloblastic Anaemia

    • Folate deficiency inhibits thymidylate synthesis, a rate-limiting step in DNA synthesis.
    • The reaction needs 5,10-methylene THF polyglutamate as a coenzyme.
    • Lack of vitamin B12 prevents demethylation of methyl THF, depriving cells of THF, and resulting in impaired DNA synthesis.

    Clinical Features of Megaloblastic Anaemia

    • Symptoms and signs of anaemia are gradually progressive.
    • Patients may be mildly jaundiced due to excess haemoglobin breakdown.

    Megaloblastic Anaemia

    • This is a group of anaemias with characteristic abnormality – delayed maturation of the nucleus relative to the cytoplasm.
    • The cause of abnormal maturation is defective DNA synthesis, usually due to vitamin B12 or folate deficiency.

    Vitamin B12 (Cobalamin)

    • Vitamin B12 is synthesized by microorganisms and found in foods of animal origin.
    • Absorption occurs in the distal ileum where B12 is released from protein-binding in food and combined with intrinsic factor (IF).
    • The IF–B12 complex binds to a specific surface receptor, cubilin, which directs endocytosis of the complex.

    Vitamin B12 Deficiency

    • Causes include pernicious anaemia, veganism, gastrectomy, or small intestinal lesions.
    • Vitamin B12 deficiency takes at least 2 years to develop due to depletion of body stores.

    Laboratory Findings

    • Anaemia is macrocytic (MCV > 98 fL) with oval-shaped macrocytes.
    • The reticulocyte count is low, and the total white cell and platelet counts may be moderately reduced.

    Diagnosis of Vitamin B12 or Folate Deficiency

    • Serum B12 and folate are assayed to diagnose megaloblastic anaemia.
    • Serum B12 is low in megaloblastic anaemia.
    • The serum and red cell folate are both low in megaloblastic anaemia caused by folate deficiency.

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    Description

    Learn about the process of folate absorption and conversion into methyl tetrahydrofolate and folate polyglutamates in the small intestine.

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