Hyperprolinemia type 2

What is hyperprolinemia type 2?

Hyperprolinemia type 2 results in 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. Hyperprolinemia type 2 causes proline levels in the blood to be 10 to 15 times higher than normal, and it also causes high levels of a related compound called pyrroline-5-carboxylate. Some people with this condition develop mild mental retardation and seizures; however, the symptoms of this disorder vary in severity among affected individuals.

Last updated on 05-01-20

Do individuals with hyperprolinemia type 2 have a shortened lifespan?

After an extensive search of the information resources available to us, we were not able to locate any information to suggest that people with hyperprolinemia type 2 have a shortened lifespan. One study of hyperprolinemia type 2 in Ireland found that most adults had normal health Children Living with Inherited Metabolic Diseases (CLIMB), an advocacy organization for individuals with metabolic disorders, also notes that when patients reach adulthood, they typically appear to be symptom-free.

Last updated on 05-01-20

Are there any clinical trials studying the use of vitamin B6 to treat hyperprolinemia type 2?

The National Institutes of Health, through the National Library of Medicine, developed ClinicalTrials.gov to provide patients, family members, and members of the public with current information on clinical research studies. No studies involving hyperprolinemia are listed at this time, but check this site often for updates.

The following article discusses vitamin B6 treatment in people with hyperprolinemia type 2: Wang HS, Kuo MF. Vitamin B6 related epilepsy during childhood. Chang Gung Med J. 2007 Sep-Oct;30(5):396-401.
The full article is available at: http://memo.cgu.edu.tw/cgmj/3005/300502.pdf

Last updated on 05-01-20

How might hyperprolinemia type 2 be treated?

There is no specific treatment for hyperprolinemia type 2, even for those individuals who experience seizures. In general, if people with hyperprolinemia type 2 have symptoms, they are usually mild and do not require treatment. If seizures are present during childhood, they tend to disappear in adulthood. Attempts to reduce the amount of proline in an affected person's diet have resulted in only modest control of proline levels in the blood and have not reduced symptoms.

Last updated on 05-01-20

Newborn Screening

Hyperprolinemia type 2

The Newborn Screening Coding and Terminology Guide has information on the standard codes used for newborn screening tests. Using these standards helps compare data across different laboratories. This resource was created by the National Library of Medicine.

Last updated on 04-27-20

Name: Metabolic Support UK 5 Hilliards Court Sandpiper Way
Chester Business Park
Chester, CH4 9QP, United Kingdom
Phone: 0845 241 2173 Toll Free: 0800 652 3181 Email: https://www.metabolicsupportuk.org/contact-us Url: https://www.metabolicsupportuk.org
Name: American Dietetic Association 120 South Riverside Plaza, Suite 2000
Chicago, IL, 60606-6995, United States
Toll Free: 800-366-1655 Email: knowledge@eatright.org Url: http://www.eatright.org/Public/

Connect with other users with Hyperprolinemia type 2 on the RareGuru app

Do you have information about a disease, disorder, or syndrome? Want to suggest a symptom?
Please send suggestions to RareGuru!

The RareGuru disease database is regularly updated using data generously provided by GARD, the United States Genetic and Rare Disease Information Center.

People Using the App

Join the RareGuru Community

To connect, share, empower and heal today.

People Using the App