title: [Biotinidase deficiency and eye].
abstract: Biotinidase deficiency is an autosomal recessive disorder depending on the deficiency of 4 biotin-containing carboxylases. This disease can lead to variety of neurologic, ophthalmologic and cutaneous symptoms, when untreated.
authors.affiliation: Kliniki Okulistyki Dzieciecej Akademii Medycznej w Białymstoku.
authors.forename: Małgorzata
authors.initials: M
authors.lastname: Mrugacz
authors.forename: Alina
authors.initials: A
authors.lastname: Bakunowicz-Łazarczyk
authors.forename: Dorota
authors.initials: D
authors.lastname: Sredzińska-Kita
mesh_terms: D001710:Biotin / Q000737:chemistry / Q000627:therapeutic use*; D028921:Biotinidase Deficiency / Q000175:diagnosis* / Q000188:drug therapy*; D005128:Eye Diseases / Q000175:diagnosis / Q000188:drug therapy / Q000201:enzymology* / Q000209:etiology; D006801:Humans
chemical_list: D001710:Biotin