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Description

5-oxoprolinase deficiency is a rare genetic disorder caused by a deficiency of the enzyme 5-oxoprolinase. This enzyme is responsible for the breakdown of the amino acid 5-oxoproline, which is a byproduct of the metabolism of certain amino acids. Without this enzyme, 5-oxoproline accumulates in the body, leading to a variety of symptoms, including seizures, developmental delays, and movement disorders. Treatment typically involves dietary modifications and supplementation with 5-oxoproline to reduce the amount of the amino acid in the body.

Basic Lab Tests (measurements)

• urine
  •      5-oxoproline

Detailed Disease and Condition Information (use the search buttons below to find details on these topics)
All of the following must be considered when interpreting clinical findings and are too extensive to be covered on this site: