Hyperprolinemia

Common Name(s)

Hyperprolinemia

Hyperprolinemia is when there is an excess of a particular protein building block (amino acid), called proline, in the blood. This condition generally occurs when proline is not broken down properly by the body. There are two inherited forms: hyperprolinemia type 1 and hyperprolinemia type 2. People with hyperprolinemia type I often do not show any symptoms, although they have proline levels in their blood between 3 and 10 times the normal level. Less commonly, affected individuals can experience seizures, intellectual disability, or other neurological or psychiatric problems. Hyperprolinemia is caused by mutations in the PRODH gene and is inherited in an autosomal recessive pattern.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Hyperprolinemia" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Hyperprolinemia" returned 10 free, full-text research articles on human participants. First 3 results:

The three-dimensional structural basis of type II hyperprolinemia.
 

Author(s): Dhiraj Srivastava, Ranjan K Singh, Michael A Moxley, Michael T Henzl, Donald F Becker, John J Tanner

Journal: J. Mol. Biol.. 2012 Jul;420(3):176-89.

 

Type II hyperprolinemia is an autosomal recessive disorder caused by a deficiency in Δ(1)-pyrroline-5-carboxylate dehydrogenase (P5CDH; also known as ALDH4A1), the aldehyde dehydrogenase that catalyzes the oxidation of glutamate semialdehyde to glutamate. Here, we report the first ...

Last Updated: 11 Jun 2012

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Evidence for association of hyperprolinemia with schizophrenia and a measure of clinical outcome.
 

Author(s): Catherine L Clelland, Laura L Read, Amanda N Baraldi, Corinne P Bart, Carrie A Pappas, Laura J Panek, Robert H Nadrich, James D Clelland

Journal: Schizophr. Res.. 2011 Sep;131(1-3):139-45.

 

There are multiple genetic links between schizophrenia and a deficit of proline dehydrogenase (PRODH) enzyme activity. However, reports testing for an association of schizophrenia with the resulting proline elevation have been conflicting. The objectives of this study were to investigate ...

Last Updated: 22 Aug 2011

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Involvement of hyperprolinemia in cognitive and psychiatric features of the 22q11 deletion syndrome.
 

Author(s): Grégory Raux, Emilie Bumsel, Bernadette Hecketsweiler, Therese van Amelsvoort, Janneke Zinkstok, Sylvie Manouvrier-Hanu, Carole Fantini, Georges-Marie M Brévière, Gabriella Di Rosa, Giuseppina Pustorino, Annick Vogels, Ann Swillen, Solenn Legallic, Jacqueline Bou, Gaelle Opolczynski, Valérie Drouin-Garraud, Marie Lemarchand, Nicole Philip, Aude Gérard-Desplanches, Michèle Carlier, Anne Philippe, Marie Christine Nolen, Delphine Heron, Pierre Sarda, Didier Lacombe, Cyril Coizet, Yves Alembik, Valérie Layet, Alexandra Afenjar, Didier Hannequin, Caroline Demily, Michel Petit, Florence Thibaut, Thierry Frebourg, Dominique Campion

Journal: Hum. Mol. Genet.. 2007 Jan;16(1):83-91.

 

Microdeletions of the 22q11 region, responsible for the velo-cardio-facial syndrome (VCFS), are associated with an increased risk for psychosis and mental retardation. Recently, it has been shown in a hyperprolinemic mouse model that an interaction between two genes localized in the ...

Last Updated: 11 Jan 2007

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The terms "Hyperprolinemia" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Targeted Vitamin D Treatment of Schizophrenia-Associated Hyperprolinemia
 

Status: Not yet recruiting

Condition Summary: Schizophrenia; Schizoaffective Disorder

 

Last Updated: 18 Jul 2014

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