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.

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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

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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

Section

Case Reports