Clinical Case of Biotinidase Deficiency

Abstract

Biotinidase deficiency is an autosomal recessively inherited metabolic disease. If left untreated, patients with biotinidase deficiency typically develop neurological and skin symptoms that can lead to coma and death. This article examined a clin ical case of a patient with biotinidase deficiency. The article is aimed at increasing the attention of neurologists to the possi ble causes of symptomatic epilepsy against the background of a hereditary autosomal recessive metabolic disease - bio tinidase deficiency.