Your browser does not support javascript:   Search for gard hereSearch for news-and-events here.

Diseases

Genetic and Rare Diseases Information Center (GARD)

Print friendly version

Sepiapterin reductase deficiency


Other Names for this Disease
  • SPR deficiency
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

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;
Your Questions Answered
by the Genetic and Rare Diseases Information Center

1 question(s) from the public on Sepiapterin reductase deficiency have been answered. See questions and answers. You can also submit a new question.

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

  • The Online Mendelian Inheritance in Man (OMIM) is an 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