Biotinidase deficiency: a rare cause of laryngeal stridor.
A case of a child with a biotinidase deficiency who had a laryngeal stridor as a leading symptom is presented. This rare disease is distressing for diagnosis but easily treatable, if recognized. This condition, unless suspect clinically, could easily be overlooked and unnecessary tracheotomy could be done.
Ataman
M
M
Departments of Otolaryngology, Hacettepe University School of Medicine, Ankara, Turkey.
Sözeri
B
B
Ozalp
I
I
D000015:Abnormalities, Multiple / Q000473:pathology; D000581:Amidohydrolases / Q000172:deficiency*; D001710:Biotin / Q000627:therapeutic use; D043523:Biotinidase; D002675:Child, Preschool; D005260:Female; D006801:Humans; D012131:Respiratory Insufficiency / Q000209:etiology; D012135:Respiratory Sounds / Q000209:etiology*
D001710:Biotin; D000581:Amidohydrolases; D043523:Biotinidase