Information displayed below is a subset of the entire knowledge base and may be incorrect, or incomplete intensionally or inadvertently. If you detect a serious error or want access to the complete knowledge base, please contact us.
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.
All of the following must be considered when interpreting
clinical findings and are too extensive to be covered on
this site: