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Description

Type II hyperprolinemia is a rare inherited disorder caused by a deficiency of the enzyme proline oxidase. This enzyme is responsible for breaking down the amino acid proline, which is found in proteins. When the enzyme is deficient, proline accumulates in the body, leading to a variety of symptoms. These can include intellectual disability, seizures, and movement disorders. In some cases, the disorder can also cause liver and kidney problems. Treatment typically involves dietary changes and medications to reduce the amount of proline in the body.

Synonyms

• delta-1-pyrroline-5-carboxylate dehydrogenase deficiency
• Type B hyperprolinemia
• Type II hyperprolinemia

Basic Lab Tests (measurements)

• plasma
  •      ornithine
  •      alanine
  •      proline
  •      glycine
• urine
  •      alanine
  •      threonine
  •      hydroxyproline
  •      serine
  •      pyrroline-5-carboxylate
  •      glycine
  •      proline

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: