Prolinemia

Common Name(s)

Prolinemia, Proline oxidase deficiency, Proline dehydrogenase deficiency, Hyperprolinemia

Prolinemia(PRO) is a rare genetic condition. PRO results from a mutation or error in a person's DNA or genes. Due to this mistake, people with PRO have problems breaking down amino acids which are the building blocks of protein. There are two forms of PRO, prolinemia type I (PRO I) and prolinemia type II (PRO II). Enzymes are special proteins that help break down food, which the body uses for energy and to make other proteins the body needs. PRO occurs when the body either does not make enough enzymes or produces non-working PRO enzymes called proline dehydrogenase and pyrroline-5-carboxylate dehydrogenase. In PRO I the proline dehydrogenase enzyme is not working correctly, and in PRO II pyrroline-5-carboxylate dehydrogenase is dysfunctionsal. Without the proper functioning of these enzymes, a person's body cannot break down the amino acid, proline. This causes high levels of proline in the blood, which can be poisonous.

Each form of PRO varies in regards to disease severity and symptoms. Many individuals, especially those with PRO I, have no signs or symptoms of the condition. Signs of a more serious case of PRO may include seizures, developmental delay, and mild intelllectual disability. Although there is currently no effective treatment, some associated symptoms tend to disappear in adulthood. Many babies are screened for PRO at birth; however, the conditions included in newborn screening differ from state to state. For more information, visit Baby’s First Test.. Talk with your doctor and genetic counselor to determine which treatment option is best for you. Support groups are also a good source of information.

Source: Advocacy organizations associated with the condition.

 

Advocacy and Support Organizations

 

Condition Specific Organizations

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

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CLIMB - Children Living with Inherited Metabolic Diseases

Climb is committed to fighting metabolic diseases through research, awareness and support. We are the UK's only dedicated organisation to provide advice, information and support on all metabolic diseases to children, young adults, families, carers and professionals.

Last Updated: 28 Jul 2015

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General Support Organizations

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How do you compare to others with this condition?

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Advocacy and Support Organizations

 

Condition Specific Organizations

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

Logo
CLIMB - Children Living with Inherited Metabolic Diseases

Climb is committed to fighting metabolic diseases through research, awareness and support. We are the UK's only dedicated organisation to provide advice, information and support on all metabolic diseases to children, young adults, families, carers and professionals.

http://www.climb.org.uk/

Last Updated: 28 Jul 2015

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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 "Prolinemia" returned 0 free, full-text research articles on human participants.

Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Prolinemia" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.