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Scholars Journal of Applied Medical Sciences | Volume-4 | Issue-02
Biotinidase Deficiency: Early Presentation
Saumya Chaturvedi, Jayashree Nadkarni, Rashmi Randa, Shweta Sharma, Rajesh Tikkas
Published: Feb. 29, 2016 | 143 135
DOI: 10.36347/sjams.2016.v04i02.058
Pages: 614-617
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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.