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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Sepiapterin reductase deficiency


Other Names for this Disease
  • Autosomal recessive sepiapterin reductase-deficient DRD
  • Dopa-responsive dystonia due to sepiapterin reductase deficiency
  • DRD due to SRD
  • SPR deficiency
Related Diseases
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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]
Last updated: 2/18/2009

References

  1. Echenne B et al.,. Sepiapterin reductase deficiency: Clinical presentation and evaluation of long-term therapy. Pediatric Neurology. 2006;
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Basic Information

  • Genetics Home Reference (GHR) contains information on Sepiapterin reductase deficiency. This website is maintained by the National Library of Medicine.

In Depth Information

  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • 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.

Selected Full-Text Journal Articles

Other Names for this Disease
  • Autosomal recessive sepiapterin reductase-deficient DRD
  • Dopa-responsive dystonia due to sepiapterin reductase deficiency
  • DRD due to SRD
  • SPR deficiency
Related Diseases
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.