The major presenting symptom in a biotinidase-deficient patient: Laryngeal stridor


Biotinidase deficiency (McKusick 25326) is the primary defect in a group of children with late-onset multiple carboxylase deficiency, an autosomal recessively inherited metabolic disorder. At some months of age, individuals with this disorder often exhibit symptoms that include seizures, muscular hypotonia, ataxia, skin rash, alopecia, fungal infections… (More)
DOI: 10.1007/BF01799644


  • Presentations referencing similar topics