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The Indian Journal of Pediatrics

, Volume 86, Issue 8, pp 752–753 | Cite as

A Novel GCH1 Mutation in An Indian Child with GTP Cyclohydrolase Deficiency

  • Vykuntaraju K. GowdaEmail author
  • Balamurugan Nagarajan
  • Varunvenkat M. Srinivasan
  • Asha Benakappa
Scientific Letter

Notes

Authors' Contributions

VKR: Revised and approved the manuscript for important intellectual content and will act as guarantor of the paper; BN: Diagnosis, management and writing the manuscript; VMS: Conducted laboratory tests and analyzed the data; AB: Conducted laboratory tests and revision of the manuscript.

Compliance with Ethical Standards

Conflict of Interest

None.

Source of Funding

None.

References

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    Niederwieser A, Blau N, Wang M, Joller P, Atares M, Cardesa-Garcia J. GTP cyclohydrolase 1 deficiency, a new enzyme defect causing hyperphenylalaninemia with neopterin, biopterin, dopamine and serotonin deficiencies and muscular hypotonia. Eur J Pediatr. 1984;141: 208–14.CrossRefPubMedGoogle Scholar
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    Blau N, Dhondt J-L. BIODEF: International database of tetrahydrobiopterin deficiencies. PKU and BH4: Advances in Phenylketonuria and Tetrahydrobiopterin. Heilbronn: SPS Verlagsgesellschaft; 2006. p. 701–6.Google Scholar
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    Naylor EW, Ennis D, Davidson AGF, Wong LTK, Applegarth DA, Niederwieser A. Guanosine triphospahte cyclohydrolase 1 deficiency: early diagnosis by routine urine pteridine screening. Pediatrics. 1987;79:374–8.PubMedGoogle Scholar
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    Sato H, Uematsu M, Endo W, et al. Early replacement therapy in a first Japanese case with autosomal recessive guanosine triphosphate cyclohydrolase 1 deficiency with a novel point mutation. Brain Dev. 2014;36:268–71.Google Scholar

Copyright information

© Dr. K C Chaudhuri Foundation 2019

Authors and Affiliations

  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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