Sepiapterin reductase deficiency

Common Name(s)

Sepiapterin reductase deficiency

Sepiapterin reductase deficiency is a type of neurotransmitter disorder. It can also be more broadly classified as an inborn error of metabolism, because it is caused by an error in the pterin metabolism. Pterin metabolism plays an important role in making neurotransmitters in the brain, specifically dopamine, serotonin, biopterin, and their metabolites. This deficiency is caused by mutations in the SPR gene and is inherited in an autosomal recessive fashion. Common symptoms include developmental delay, learning disability, and impaired motor skills. Treatment with levodopa has shown much success causing drastic improvements in motor functioning.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Sepiapterin reductase deficiency" 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.
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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.