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.
The terms "Sepiapterin reductase deficiency" returned 4 free, full-text research articles on human participants. First 3 results:

The silkworm mutant lemon (lemon lethal) is a potential insect model for human sepiapterin reductase deficiency.
 

Author(s): Yan Meng, Susumu Katsuma, Takaaki Daimon, Yutaka Banno, Keiro Uchino, Hideki Sezutsu, Toshiki Tamura, Kazuei Mita, Toru Shimada

Journal: J. Biol. Chem.. 2009 Apr;284(17):11698-705.

 

Tetrahydrobiopterin (BH4) is an essential cofactor for aromatic acid hydroxylases, which control the levels of monoamine neurotransmitters. BH4 deficiency has been associated with many neuropsychological disorders. An inherited defect in BH4 biosynthesis is caused by the deficiency ...

Last Updated: 20 Apr 2009

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A murine model for human sepiapterin-reductase deficiency.
 

Author(s): Seungkyoung Yang, Young Jae Lee, Jin-Man Kim, Sean Park, Joanna Peris, Philip Laipis, Young Shik Park, Jae Hoon Chung, S Paul Oh

Journal: Am. J. Hum. Genet.. 2006 Apr;78(4):575-87.

 

Tetrahydrobiopterin (BH(4)) is an essential cofactor for several enzymes, including all three forms of nitric oxide synthases, the three aromatic hydroxylases, and glyceryl-ether mono-oxygenase. A proper level of BH(4) is, therefore, necessary for the metabolism of phenylalanine and ...

Last Updated: 13 Mar 2006

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Sepiapterin reductase deficiency: a congenital dopa-responsive motor and cognitive disorder.
 

Author(s): B G R Neville, R Parascandalo, R Farrugia, A Felice

Journal: Brain. 2005 Oct;128(Pt 10):2291-6.

 

This study presents the clinical findings on seven children from Malta (population 385,000). All of them had early motor delay and a significant degree of cognitive impairment. Diurnal variation of the motor impairments was clear in six out of seven of the subjects and oculogyric ...

Last Updated: 26 Sep 2005

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Reviews from the PubMed Database

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The terms "Sepiapterin reductase deficiency" 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

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