Biotinidase Deficiency, a Rare but Treatable Inborn Error of Metabolism
نویسندگان
چکیده
Biotinidase deficiency (BTD) is a rare inherited metabolic disorder with predominant dermatogical and neurological manifestations, which if untreated leads to severe sequelae. Early diagnosis prompt treatment biotin prevents further progression of symptoms resolution cutaneous features. We report an interesting case four half year male child presenting seizures, developmental delay non resolving extensive skin lesions alopecia, diagnosed as BTD successfully treated.
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ژورنال
عنوان ژورنال: Journal of Nepal Paediatric Society
سال: 2021
ISSN: ['1990-7982', '1990-7974']
DOI: https://doi.org/10.3126/jnps.v41i2.32749