5-oxoprolinase deficiency

5-oxoprolinase deficiency is a rare condition that affects the body’s ability to process a chemical called 5-oxoproline. This condition is described as very heterogeneous, meaning that people with this condition can show a variety of different symptoms or clinical features. The condition is identified by the presence of 5-oxoprolinuria, where 5-oxoproline is found in the urine. Although the overall presentation may vary, the detection of this biochemical abnormality is common among people with the condition.

Information about symptoms is currently limited for this condition.

5-oxoprolinase deficiency is an inborn error, which means it is present from birth. The condition is linked to the OPLAH gene, which is important for the normal functioning of the 5-oxoprolinase enzyme. Abnormalities in this gene can lead to issues with the enzyme’s activity and result in the condition.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about current research and future directions is currently limited for this condition.