Publication:

Biotinidase deficiency: a novel phenotype from a tertiary care centre

Biotinidase deficiency (BD) (OMIM 609019) autosomal recessive inherited metabolic disorder where enzyme biotinidase, is defective and biotin is not recycled in body. One novel phenotype reported from our tertiary care centre, 3-month-old baby presented with bilateral corneal haziness, development delay and seizures. Evaluation showed metabolic acidosis, persistent lactate elevation and MRI showed acute infract. Metabolic evaluation showed profound BD, confirmed by molecular testing. Treatment and follow up with biotin showed clearing of corneal opacity, resolution of bleed and improvement in development and seizures. BD has got wide range of clinical manifestations- neurologic, dermatologic, ophthalmologic and immunological features. Acute infract and corneal opacity are not yet reported in OMIM literature and BD not considered in differential diagnosis of stroke in metabolic disorders. Being clinicians, it is our responsibility to add novel associations and clinical findings and thus broaden the phenotype.