title: A Case of Biotinidase Deficiency in an Adult with Respiratory Failure in the Intensive Care Unit.
abstract: BACKGROUND
  Biotinidase deficiency (BD) is a rare, inherited autosomal recessive disorder that is treatable within childhood. We present a patient with pneumonia and respiratory acidosis who was not diagnosed with any systemic disorders; the patient was finally diagnosed as BD.
  
  
  METHODS
  A thirty-year-old woman was admitted to the emergency department with respiratory failure that had persisted for a few days and progressively weakening over the previous six months. Then, the patient was admitted to the intensive care unit with marked respiratory acidosis, respiratory failure and alterations in consciousness. At the follow-up, the patient was not diagnosed with a systematic disorder. Rather, the patient's historical clinical findings suggested a metabolic disorder. Finally, the patient was diagnosed with biotinidase deficiency.
  
  
  CONCLUSIONS
  Even though biotinidase deficiency is not frequently seen in the intensive care unit, metabolic syndromes such as biotinidase deficiency should be considered. Patients should be evaluated holistically with attention to medical history, family history and clinical findings.
authors.affiliation: Division of Reanimation, Department of Anesthesiology and Reanimation, İstanbul University School of Medicine, İstanbul, Turkey.
authors.forename: Zerrin
authors.initials: Z
authors.lastname: Demirtürk
authors.affiliation: Division of Reanimation, Department of Anesthesiology and Reanimation, İstanbul University School of Medicine, İstanbul, Turkey.
authors.forename: Evren
authors.initials: E
authors.lastname: Şentürk
authors.affiliation: Division of Reanimation, Department of Anesthesiology and Reanimation, İstanbul University School of Medicine, İstanbul, Turkey.
authors.forename: Abbas
authors.initials: A
authors.lastname: Köse
authors.affiliation: Division of Reanimation, Department of Anesthesiology and Reanimation, İstanbul University School of Medicine, İstanbul, Turkey.
authors.forename: Perihan Ergin
authors.initials: PE
authors.lastname: Özcan
authors.affiliation: Division of Reanimation, Department of Anesthesiology and Reanimation, İstanbul University School of Medicine, İstanbul, Turkey.
authors.forename: Lütfi
authors.initials: L
authors.lastname: Telci
keywords: Biotinidase deficiency; acidosis; respiratory; respiratory failure