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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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Tests & Diagnosis

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How is sepiapterin reductase deficiency diagnosed?

Sepiapterin reductase deficiency may be considered in children with characteristic clinical findings, including developmental delays with hypotonia, unexplained cerebral palsy, especially when dystonia is present, and an L-dopa responsive motor disorder.[1]

Diagnosis is based on characteristic abnormalities of neurotransmitters and pterins in the cerebrospinal fluid.[1][2][3] More specifically, cerebrospinal fluid findings include low levels of 5-hydroxyindolacetic acid (5-HIAA) and homovanillic acid (HVA); slightly increased levels of neopterin; and elevated total biopterin and dihydrobiopterin (BH2). Sepiapterin reductase activity in fibroblasts is usually reduced or absent. Molecular genetic testing can identify mutations in the SPR gene, confirming the diagnosis.[1][2] Testing can be done using single-gene testing or a multi-gene panel.[1]
Last updated: 4/20/2016

References
  1. Friedman J. Sepiapterin Reductase Deficiency. GeneReviews. July 1, 2015; https://www.ncbi.nlm.nih.gov/books/NBK304122/.
  2. 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.
  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.


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
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.