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Biotinidase Deficiency, a Rare but Treatable Inborn Error of Metabolism.

Authors :
Rup, Amit Ranjan
Dash, Arun Kumar
Behera, Jyoti Ranjan
Patanaik, Sibabratta
Jain, Mukesh Kumar
Source :
Journal of Nepal Paediatric Society. May-Aug2021, Vol. 41 Issue 2, p270-273. 4p.
Publication Year :
2021

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. [ABSTRACT FROM AUTHOR]

Details

Language :
English
ISSN :
19907974
Volume :
41
Issue :
2
Database :
Academic Search Index
Journal :
Journal of Nepal Paediatric Society
Publication Type :
Academic Journal
Accession number :
154850316
Full Text :
https://doi.org/10.3126/jnps.v41i2.32749