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The Indian Journal of Pediatrics

, Volume 85, Issue 9, pp 812–813 | Cite as

Dihydropteridine Reductase Deficiency: A Treatable Neurotransmitter Movement Disorder Masquerading as Refractory Epilepsy Due to Novel Mutation

  • Vykuntaraju K. Gowda
  • Hemadriben Vegda
  • Naveen Benakappa
  • Asha Benakappa
Scientific Letter
  • 96 Downloads

Notes

Contributions

VKG: Revised and approved the manuscript for important intellectual content and will act as guarantor of the paper; HV: Diagnosis, management and writing the manuscript; NB: Conducted laboratory tests and analyzed the data; AB: Supervision of the work and revision of the manuscript.

Compliance with Ethical Standards

Conflict of Interest

None.

References

  1. 1.
    Coughlin CR, Hyland K, Randall R, Ficicioglu C. Dihydropteridine reductase deficiency and treatment with tetrahydrobiopterin: a case report. JIMD Rep. 2013;10:53–6.CrossRefPubMedGoogle Scholar
  2. 2.
    Ponzone A, Spada M, Ferraris S, Dianzani I, de Sanctis L. Dihydrobiopterin reductase deficiency in man: from biology to treatment. Med Res Rev. 2004;24:127–50.CrossRefPubMedGoogle Scholar
  3. 3.
    Dianzani I, de Sanctis L, Smooker PM, et al. Dihydropteridine reductase deficiency: physical structure of the QDPR gene, identification of two new mutations and genotype-phenotype correlations. Hum Mutat. 1998;12:267–73.CrossRefPubMedGoogle Scholar

Copyright information

© Dr. K C Chaudhuri Foundation 2018

Authors and Affiliations

  • Vykuntaraju K. Gowda
    • 1
    • 2
  • Hemadriben Vegda
    • 3
  • Naveen Benakappa
    • 1
  • Asha Benakappa
    • 1
  1. 1.Department of Pediatric NeurologyIndira Gandhi Institute of Child HealthBangaloreIndia
  2. 2.Bangalore Child Neurology and Rehabilitation CenterBangaloreIndia
  3. 3.Department of PediatricsIndira Gandhi Institute of Child HealthBangaloreIndia

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