A Case of Biotinidase Deficiency in an Adult with Respiratory Failure in the Intensive Care Unit

Zerrin DEMİRTÜRK; Evren ŞENTÜRK; Abbas KÖSE; Perihan  Ergin ÖZCAN; Lütfi TELCİ

Article Details

A Case of Biotinidase Deficiency in an Adult with Respiratory Failure in the Intensive Care Unit

Authors:

Zerrin DEMİRTÜRK | Evren ŞENTÜRK | Abbas KÖSE | Perihan Ergin ÖZCAN | Lütfi TELCİ

Publisher:

Trakya University

Journal:

Balkan Medical Journal 2016 Vol.33 Issue 5, pp.563-565

Document Type:

Article

Publication Date:

8/2016

Document Language:

Turkish

Document ID (Org No.):

2000759433

Frequency:

Bimonthly

pISSN:

2146-3123

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.     Case Report: 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.     Conclusion: 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.

Article Details

A Case of Biotinidase Deficiency in an Adult with Respiratory Failure in the Intensive Care Unit

Authors: Zerrin DEMİRTÜRK | Evren ŞENTÜRK | Abbas KÖSE | Perihan Ergin ÖZCAN | Lütfi TELCİ

Publisher: Trakya University

Journal: Balkan Medical Journal 2016 Vol.33 Issue 5, pp.563-565

Document Type: Article

Publication Date: 8/2016

Document Language: Turkish

Document ID (Org No.): 2000759433

Frequency: Bimonthly

pISSN: 2146-3123

Issues

Authors:

Zerrin DEMİRTÜRK | Evren ŞENTÜRK | Abbas KÖSE | Perihan Ergin ÖZCAN | Lütfi TELCİ

Publisher:

Trakya University

Journal:

Balkan Medical Journal 2016 Vol.33 Issue 5, pp.563-565

Document Type:

Article

Publication Date:

8/2016

Document Language:

Turkish

Document ID (Org No.):

2000759433

Frequency:

Bimonthly

pISSN:

2146-3123