Biotinidase Deficiency and Seizures

The document reported a case study of a 5-year-old boy who was hospitalized due to symptoms including acute somnolence, alopecia, keratoconjunctivitis, and perioral stomatitis, which were associated with lactic acidaemia. The case highlighted the potential link between these symptoms and biotinidase deficiency, suggesting that this enzyme deficiency could lead to such clinical manifestations. The study underscored the importance of considering biotinidase deficiency in patients presenting with similar symptoms to ensure timely diagnosis and treatment.