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Hydroxyproline metabolism in type II hyperprolinaemia.

S Similä

    Annals of Clinical Biochemistry
    |July 1, 1979
    PubMed
    Summary
    This summary is machine-generated.

    Type II hyperprolinaemia (HP II) involves abnormal hydroxyproline metabolism. Oral hydroxyproline loading increased urinary hydroxyproline metabolites (3 OH-PC, PC) in HP II patients, suggesting a metabolic pathway alteration.

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    Area of Science:

    • Biochemistry
    • Human Physiology
    • Metabolic Disorders

    Background:

    • Type II hyperprolinaemia (HP II) is a rare genetic disorder characterized by elevated plasma proline levels.
    • The metabolic pathways of hydroxyproline and proline in HP II are not fully understood.

    Purpose of the Study:

    • To investigate hydroxyproline metabolism in patients with type II hyperprolinaemia.
    • To identify urinary metabolites of hydroxyproline following oral loading tests.

    Main Methods:

    • Oral loading tests with hydroxyproline and hydroxyproline-ornithine were administered to two HP II patients and healthy controls.
    • Urinary and plasma samples were analyzed for proline and hydroxyproline metabolites, including delta 1-pyrroline-3-hydroxy-5-carboxylic acid (3 OH-PC) and delta 1-pyrroline-5-carboxylic acid (PC).

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    Main Results:

    • Urinary excretion of 3 OH-PC and PC significantly increased in HP II patients after hydroxyproline and hydroxyproline-ornithine loading, unlike in controls.
    • Plasma proline levels in HP II patients were high, while hydroxyproline levels were normal or slightly elevated.
    • One HP II patient showed a significant decrease in plasma proline following hydroxyproline-ornithine load, accompanied by a 40-fold increase in urinary proline excretion.

    Conclusions:

    • Hydroxyproline is likely converted to pyrrole-2-carboxylic acid and excreted as a glycine conjugate in HP II.
    • The findings suggest a distinct metabolic pathway for hydroxyproline in HP II, potentially influencing proline levels.