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Diseases

Genetic and Rare Diseases Information Center (GARD)

Sepiapterin reductase deficiency


Other Names for this Disease
  • SPR deficiency
Related Diseases
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Treatment

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How might sepiapterin reductase deficiency be treated?

Treatment of sepiapterin reductase deficiency may involve levodopa (L-dopa), carbidopa and 5-hydroxytryptophan.[1][2] General information on levodopa and carbidopa can be found on the MedlinePlus Web site by clicking here.  

Treatment should be started as soon as possible in order to avoid irreversible neurological damage and continued for life.[1] The amounts of L-dopa administered to people with sepiapterin reductase deficiency vary, but, in general, tends to be between 0.1 and 16 mg/kg/day. 5-hydroxytryptophan doses tend to be between 0.14 to 6 mg/kg/day.[1][2] Combination therapy is introduced slowly and increased by over the course of days or weeks until the final target concentration is reached. People receiving this treatment regimen require careful monitoring because increasing the dose too quickly can cause side-effects. Patients receiving treatment may be monitored with routine evaluations by a pediatric neurologist, video documentation, and follow-up testing looking at cerebral spinal fluid (CSF) metabolite concentrations. Samples of CSF are obtained by lumbar puncture.[3]

If L-dopa and 5-hydroxytryptophan in combination with carbidopa are not well tolerated or don't achieve the desired results, other medications may be considered. These include monoamine oxidase inhibitors, serotonin reuptake inhibitors, melatonin, dopamine agonists, anticholinergics, and methylphenidate. While these medications address the motor abnormalities of the condition, cognitive delays commonly remain.[2]
Last updated: 4/20/2016

References
  1. Kamm C. Dopa-responsive dystonia due to sepiapterin reductase deficiency. Orphanet. November 2013; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70594.
  2. Friedman J. Sepiapterin Reductase Deficiency. GeneReviews. July 1, 2015; https://www.ncbi.nlm.nih.gov/books/NBK304122/.
  3. Echenne B et al.,. Sepiapterin reductase deficiency: Clinical presentation and evaluation of long-term therapy. Pediatric Neurology. 2006 Nov; 35(5):308-13. https://www.ncbi.nlm.nih.gov/pubmed/?term=17074599.


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Management Guidelines

  • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.

Clinical Trials & Research for this Disease

  • The U.S. National Institutes of Health, through the National Library of Medicine, developed ClinicalTrials.gov to provide patients, family members, and members of the public with current information on clinical research studies. There is a study titled Studies of Children with Metabolic or Other Genetic Disorders which may be of interest to you. To find this trial, click on the link above.
  • Orphanet lists European clinical trials, research studies, and patient registries enrolling people with this condition. 
Other Names for this Disease
  • 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.