Biotin is a water-soluble vitamin and co-factor for activation of carboxylases apoenzymes. Biotinidase
enzyme is essential for release of biotin from apoenzymes. Absence of biotinidase is an autosomal recessive
trait with a prevalence of 1 in 60000. Clinical manifestations of biotinidase deficiency include dermatitis,
alopecia, seizures, hypotonia, developmental delay, hearing loss, visual impairment and immunodeficiency.
With early diagnosis and treatment with biotin supplements, it is possible to prevent clinical manifestations
and neurological deficits.
We report a case of biotinidase deficiency with seizures, developmental delay, acrodermatitis enthropathica
manifestations and mild compensated acidosis.