Hyperprolinemia Type I

National Organization for Rare Disorders, Inc.

Important
It is possible that the main title of the report Hyperprolinemia Type I is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.

Synonyms

  • Proline Oxidase Deficiency

Disorder Subdivisions

  • None

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. Proline is abundant in nature and readily found in a variety of foods.

Hyperprolinemia Type I (HP-I) is characterized by abnormally high levels of proline in the blood. The high level of blood proline is the result of a deficiency of the enzyme proline oxidase, which is essential to the normal breakdown (metabolism) of proline. There are often no clinical manifestations of HP-1.

Hyperprolinemia II (HP-II) results from the deficiency of another enzyme and also results in high blood proline levels, as well as other more severe clinical manifestations than are seen in HP-I. Mild mental retardation and convulsions are commonly associated with HP-II.
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Resources

CLIMB (Children Living with Inherited Metabolic Diseases)
Climb Building
176 Nantwich Road
Crewe, Intl CW2 6BG
United Kingdom
Tel: +44 870 7700 325
Fax: +44 870 7700 327
Email: info.svcs@climb.org.uk
Internet: http://www.CLIMB.org.uk

NIH/National Institute of Diabetes, Digestive & Kidney Diseases
Endocrine Diseases Metabolic Diseases Branch
2 Information Way
Bethesda, MD 20892-3570
Tel: (301)654-3810
Fax: (301)496-7422
Email: NDDIC@info.niddk.nih.gov
Internet: http://www.niddk.nih.gov

Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
Tel: (301)251-4925
Fax: (301)251-4911
Tel: (888)205-2311
TDD: (888)205-3223
Email: ordr@od.nih.gov
Internet: http://rarediseases.info.nih.gov/Default.aspx

For a Complete Report

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders, Inc. ® (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html

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