Biopterin defect in cofactor regeneration

Common Name(s)

Biopterin defect in cofactor regeneration

Biopterin defect in cofactor regeneration (BIOPT-REG) is a rare genetic disorder causing high levels of the amino acid phenylalanine. Our body breaks down extra protein we eat into its building blocks, the amino acids. Special proteins break down any extra amino acids into harmless products our body can get rid of. If a protein needed to break down phenylalanine is missing, phenylalanine builds up. Symptoms include seizures (epilepsy), muscle weakness (hypotonia), and trouble regulating body temperature. A person with BIOPT-REG also has trouble making chemical signals for the nervous system (neurotransmitters). A lack of neurotransmitters can cause developmental delays, sleep disorders, and behavioral problems.

BIOPT-REG is caused by a mutation (change) to the PCBD1 or QDPR genes. Both genes allow the body to recycle tetrahydrobiopterin (BH4). BH4 helps break down phenylalanine, so if there isn’t enough BH4 recycled, phenylalanine builds up. BHR also makes neurotransmitters. A baby with BIOPT-REG appears healthy until the level of phenylalanine gets too high, usually around 4 months.

BIOPT-REG is an autosomal recessive disorder, meaning both copies of either PCBD1 or QDPR genes must be changed to have symptoms. High levels of phenylalanine in the blood may suggest BIOPT-REG. Other genetic disorders also cause high levels, so genetic testing is needed to confirm the diagnosis. Treatment for BIOPT-REG includes supplements to increase BH4 levels. Many babies are screened for BIOPT-REG at birth so treatment can begin early, but newborn screening conditions vary by state. For more information, visit Baby’s First Test. If your baby has been diagnosed with BIOPT-REG, talk with their doctor about the most current treatment options. Genetic counselors and support groups are also good sources of information.

Source: Advocacy organizations associated with the condition.

 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Biopterin defect in cofactor regeneration" 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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Pediatric Neurotransmitter Disease Association

Our mission is to help children and families who are affected by PNDs, support the identification of new PNDs, find better treatments and ultimately a cure for those diseases that are already known.

Last Updated: 27 Jul 2015

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Biopterin defect in cofactor regeneration" 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

View Details
Pediatric Neurotransmitter Disease Association

Our mission is to help children and families who are affected by PNDs, support the identification of new PNDs, find better treatments and ultimately a cure for those diseases that are already known.

http://www.pndassoc.org

Last Updated: 27 Jul 2015

View Details

 

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 "Biopterin defect in cofactor regeneration" 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 "Biopterin defect in cofactor regeneration" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.