Article: Biotinidase Deficiency, a Rare but Treatable Inborn Error of Metabolism
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.
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
Keywords
Biotinidase deficiency, Icthyosis, Newborn Screening, seizures
Identifier
https://doi.org/10.3126/jnps.v41i2.32749
Citation
Collections