Biotinidase Deficiency: Early Presentation
Journal Title: Scholars Journal of Applied Medical Sciences - Year 2016, Vol 4, Issue 2
Abstract
A 2 month old male child presented with fever, seizures, metabolic acidosis, alopecia and dermatitis. Diagnosed to be case of biotinidase enzyme deficiency. Identification of this disorder is important as it is easily treatable and the patients show dramatic response to therapy. It can prove fatal if not diagnosed. Keywords: alopecia, dermatitis, biotinidase enzyme deficiency.
Authors and Affiliations
Saumya Chaturvedi, Jayashree Nadkarni, Rashmi Randa, Shweta Sharma, Rajesh Tikkas
Keywords
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