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Sepiapterin reductase deficiency
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Overview
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.[1] 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.[1] Treatment with levodopa has shown much success causing drastic improvements in motor functioning.[1]
References
- Echenne B et al.,. Sepiapterin reductase deficiency: Clinical presentation and evaluation of long-term therapy. Pediatric Neurology. 2006.
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General Information
- Genetics Home Reference (GHR) contains information on Sepiapterin reductase deficiency. Click on the link to go to GHR and review the information.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge. Click on the link to read information on this topic.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Sepiapterin reductase deficiency. Click on the link to view a sample search on this topic.
- The The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Sepiapterin reductase deficiency. Click on the link to go to OMIM and review these resources.
Selected Full-Text Journal Articles
- B. G. R. Neville, R. Parascandalo, R. Farrugia and A. Felice, Sepiapterin reductase deficiency: a congenital dopa-responsive motor and cognitive disorder, Brain (2005) 128(10):2291-2296.