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Disease or Condition — Hormonal, Nutritional, Metabolic, and Immune Disorders:
5-oxoprolinase deficiency

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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)

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