Biotinidase Deficiency, a Rare but Treatable Inborn Error of Metabolism

Authors

  • Amit Ranjan Rup Department of Paediatrics, Klinga institute of Medical Sciences, Bhubaneswar, Odisha, India
  • Arun Kumar Dash Department of Paediatrics, Klinga institute of Medical Sciences, Bhubaneswar, Odisha, India
  • Jyoti Ranjan Behera Department of Paediatrics, Klinga institute of Medical Sciences, Bhubaneswar, Odisha, India https://orcid.org/0000-0002-4648-7710
  • Sibabratta Patanaik Department of Paediatrics, Klinga institute of Medical Sciences, Bhubaneswar, Odisha, India
  • Mukesh Kumar Jain Department of Paediatrics, Klinga institute of Medical Sciences, Bhubaneswar, Odisha, India

DOI:

https://doi.org/10.3126/jnps.v41i2.32749

Keywords:

Biotinidase deficiency, Icthyosis, Newborn Screening, seizures

Abstract

Biotinidase deficiency (BTD) is a rare inherited metabolic disorder with predominant dermatogical and neurological manifestations, which if untreated leads to severe neurological sequelae. Early diagnosis and prompt treatment with biotin prevents further progression of neurological symptoms and resolution of cutaneous features. We report an interesting case of four and half year male child presenting with seizures, developmental delay with non resolving extensive skin lesions and alopecia, diagnosed as BTD and successfully treated.

Downloads

Download data is not yet available.
Abstract
261
PDF
254

Author Biographies

Amit Ranjan Rup, Department of Paediatrics, Klinga institute of Medical Sciences, Bhubaneswar, Odisha, India

Senior resident,Department of Pediatrics,Klinga institute of Medical Sciences,Bhubaneswar,Odisha

Arun Kumar Dash, Department of Paediatrics, Klinga institute of Medical Sciences, Bhubaneswar, Odisha, India

Senior Resident,Department of Pediatrics

Jyoti Ranjan Behera, Department of Paediatrics, Klinga institute of Medical Sciences, Bhubaneswar, Odisha, India

Assistant Professor,Department of Pediatrics

Sibabratta Patanaik, Department of Paediatrics, Klinga institute of Medical Sciences, Bhubaneswar, Odisha, India

Associate Professor,Department of Pediatrics

Mukesh Kumar Jain, Department of Paediatrics, Klinga institute of Medical Sciences, Bhubaneswar, Odisha, India

Assistant Professor,Department Of Pediatrics

Downloads

Published

2021-11-03

How to Cite

Rup, A. R., Dash, A. K., Behera, J. R., Patanaik, S., & Jain, M. K. (2021). Biotinidase Deficiency, a Rare but Treatable Inborn Error of Metabolism. Journal of Nepal Paediatric Society, 41(2), 270–273. https://doi.org/10.3126/jnps.v41i2.32749

Issue

Vol. 41 No. 2 (2021)

Section

Case Reports

License

Copyright (c) 2021 Amit Ranjan Rup, Arun Kumar Dash, Jyoti Ranjan Behera, Sibabratta Patanaik, Mukesh Kumar Jain

Creative Commons License

This work is licensed under a Creative Commons Attribution 4.0 International License.

Authors who publish with this journal agree to the following terms:

Authors retain copyright and grant the journal right of first publication with the work simultaneously licensed under a Creative Commons Attribution License that allows others to share the work with an acknowledgement of the work's authorship and initial publication in this journal.

Authors are able to enter into separate, additional contractual arrangements for the non-exclusive distribution of the journal's published version of the work (e.g., post it to an institutional repository or publish it in a book), with an acknowledgement of its initial publication in this journal.

Authors are permitted and encouraged to post their work online (e.g., in institutional repositories or on their website) prior to and during the submission process, as it can lead to productive exchanges, as well as earlier and greater citation of published work (See The Effect of Open Access).