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Disease or Condition — Hormonal, Nutritional, Metabolic, and Immune Disorders:
4-hydroxy-L-proline oxidase deficiency

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Hydroxyprolinemia is a rare metabolic disorder caused by a deficiency of the enzyme hydroxyproline oxidase. This enzyme is responsible for the breakdown of the amino acid hydroxyproline, which is found in collagen, a major component of connective tissue. Without the enzyme, hydroxyproline accumulates in the body, leading to a variety of symptoms, including joint pain, muscle weakness, and fatigue. In some cases, hydroxyprolinemia can also cause growth delays and intellectual disability. Treatment typically involves dietary changes and supplementation with hydroxyproline-rich foods.

  • hydroxyprolinemia
Basic Lab Tests (measurements)

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