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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
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Tests & Diagnosis

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How is sepiapterin reductase deficiency diagnosed?

Sepiapterin reductase deficiency may be considered in children with early-onset encephalopathy with motor delays, particularly in children with periodic locked upward or sideways eye gaze (oculogyric crisis), abnormal body movements, and posturing. Diagnosis is based on careful examination of neurotransmitters in the cerebrospinal fluid. People with sepiapterin reductase deficiency show abnormalities in the metabolic pathway of dopamine, serotonin, biopterin, and their metabolites. Further testing of cerebrospinal fluid for sepipterin may be necessary. Testing for dihydropteridin reductase and sepiapterin reductase in fibroblasts may also be recommended.[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;


Testing

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
  • Orphanet lists international laboratories offering diagnostic testing for 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.