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

Diseases

Genetic and Rare Diseases Information Center (GARD)

Sepiapterin reductase deficiency


Other Names for this Disease
  • SPR deficiency
  • Autosomal recessive sepiapterin reductase-deficient DRD
  • Dopa-responsive dystonia due to sepiapterin reductase deficiency
  • DRD due to SRD
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.

Treatment

Newline Maker

How might sepiapterin reductase deficiency be treated?

Treatment of sepiapterin reductase deficiency may involve levodopa, carbidopa and 5-hydroxytryptophan. General information on levodopa and carbidopa can be found on the MedlinePlus Web site by clicking here.  

The amounts of levodopa and carbidopa administered to people with sepiapterin reductase deficiency vary, but, in general, tends to be between 1 and 10 mg/kg/day in three or four doses. 5-hydroxytryptophan doses tend to be between 1 to 8 mg/kg/day also in three or four doses. This combination therapy is introduced slowly and increased by 1 mg/kg or less over days or weeks until the final target concentration is reached. Folinic acid supplementation may also be needed. Therapy with levodopa and carbidopa alone or in combination with tetrahydrobiopterin may be considered for people who do not respond well to 5-hydroxytryptophan.[1]

People receiving the levodopa treatment regimen require careful monitoring because increasing the dose too quickly can cause side-effects. Patients recieving 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. In addition, monitoring prolactin levels may be informative for patients who had high levels of prolactin before starting levodopa therapy.[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;


GARD Video Tutorial

  • Finding Treatment Information - A video developed by GARD Information Specialists that explains how you can find information about treatment for a rare disease.

    Finding Treatment Information

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
  • Autosomal recessive sepiapterin reductase-deficient DRD
  • Dopa-responsive dystonia due to sepiapterin reductase deficiency
  • DRD due to SRD
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.