Sepiapterin Reductase Deficiency
National Organization for Rare Disorders, Inc.
It is possible that the main title of the report Sepiapterin Reductase Deficiency is not the name you expected.
Sepiapterin reductase deficiency (SRD) is a rare genetic disorder that is characterized by abnormally low levels of certain neurotransmitters. Neurotransmitters are chemicals that modify, amplify or transmit nerve impulses from one nerve cell to another, enabling nerve cells to communicate. The severity of sepiapterin reductase deficiency can range from a mild movement disorder at one end to severe, progressive neurological disease at the other. Common symptoms include lack of muscle tone (hypotonia), drooling, loss of coordination, abnormal movements, delayed motor and language development (i.e. delays in reaching developmental milestones), and/or dystonia. Dystonia is a general term for a group of muscle disorders, generally characterized by involuntary muscle contractions that force the body into abnormal, sometimes painful, movements and positions (postures). The specific symptoms can vary dramatically from one person to another. Prompt diagnosis and treatment can reduce or potentially prevent severe, irreversible neurological damage. Children with sepiapterin reductase deficiency may show a dramatic response and sustained improvement when treated with levodopa. Levodopa is a chemical that is converted to dopamine, a brain chemical that serves as a neurotransmitter. Some individuals show benefit with treatment with addition of 5-HTP, a neurotransmitter precursor that is converted to serotonin. Sepiapterin reductase deficiency is caused by mutations in the SPR gene and is inherited as an autosomal recessive disorder.
Sepiapterin reductase deficiency can be classified as a form of dystonia, a pediatric neurotransmitter disorder or a disorder of tetrahydrobiopterin deficiency. The disorder is sometimes referred to as a form of dopa-responsive dystonia. However, dystonia is not always present in infancy and may not be a universal symptom so that term may not apply to all cases. The non-specific symptoms of this condition may be misdiagnosed as cerebral palsy.
American Dystonia Society
- 17 Suffolk Lane
- Suite 1
- Princeton Junction, NJ 08550
- Tel: 310-237-5478
- Fax: 609-275-5663
- Email: email@example.com
- Website: http://www.dystonia.us
CLIMB (Children Living with Inherited Metabolic Diseases)
- Climb Building
- 176 Nantwich Road
- Crewe, CW2 6BG
- United Kingdom
- Tel: 4408452412173
- Fax: 4408452412174
- Email: firstname.lastname@example.org
- Website: http://www.CLIMB.org.uk
Dystonia Medical Research Foundation
- 1 East Wacker Drive, Suite 2810 East Wacker Drive
- Suite 2810
- Chicago, IL 60601-1905
- United States
- Tel: (312)755-0198
- Fax: (312)803-0138
- Tel: (800)377-3978
- Email: email@example.com
- Website: http://www.dystonia-foundation.org
- 89 Albert Embankment, 2nd Floor
- London, SE1 7TP
- United Kingdom
- Tel: 8454586211
- Fax: 8454586311
- Tel: 8454586322
- Email: firstname.lastname@example.org
- Website: http://www.dystonia.org.uk
Genetic and Rare Diseases (GARD) Information Center
- PO Box 8126
- Gaithersburg, MD 20898-8126
- Tel: (301)251-4925
- Fax: (301)251-4911
- Tel: (888)205-2311
- Website: http://rarediseases.info.nih.gov/GARD/
Pediatric Neurotransmitter Disease Association
- 28 Prescott Place
- Old Bethpage, NY 11804
- Tel: (603)733-8409
- Email: email@example.com
- Website: http://www.pndassoc.org
- 1825 K Street NW, Suite 1200
- Washington, DC 20006
- Tel: (202)534-3700
- Fax: (202)534-3731
- Tel: (800)433-5255
- Email: firstname.lastname@example.org
- Website: http://www.thearc.org
For a Complete Report
This is an abstract of a report from the National Organization for Rare Disorders (NORD). For a full-text version of this report, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".
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This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
Last Updated: 8/25/2015
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