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Hyperprolinemia Type II

Abstract

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Synonyms of Hyperprolinemia Type II

Pyrroline Carboxylate Dehydrogenase Deficiency

Disorder Subdivisions

No subdivisions found.

General Discussion

Two types of hyperprolinemia are recognized by physicians and clinical researchers. Each represents an inherited inborn error of metabolism involving the amino acid, proline.

Hyperprolinemia Type I (HP-I) is characterized by high levels of proline in the blood resulting from a deficiency of the enzyme proline oxidase, which is key to the breakdown (metabolism) of proline. There are often no clinical manifestations of HP-1.

Hyperprolinemia II (HP-II) is a rare metabolic disorder that results from the deficiency of the enzyme known as delta-pyrroline-5-carboxylate (P-5-C) dehydrogenase. This disorder results in more severe clinical manifestations than are seen in HP-I, and may be associated with mild mental retardation and seizures.

Organizations related to Hyperprolinemia Type II

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