A Case of Biotinidase Deficiency in an Adult with Respiratory Failure in the Intensive Care Unit
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 thi...
Main Authors: | Zerrin Demirtürk, Evren Şentürk, Abbas Köse, Perihan Ergin Özcan, Lütfi Telci |
---|---|
Format: | Article |
Language: | English |
Published: |
Galenos Publishing House
2016-10-01
|
Series: | Balkan Medical Journal |
Subjects: | |
Online Access: | http://balkanmedicaljournal.org/text.php?lang=en&id=44 |
Similar Items
-
Biotinidase Deficiency and Seizures
by: J Gordon Millichap
Published: (1993-07-01) -
First microdeletion involving only the biotinidase gene that can cause biotinidase deficiency: A lesson for clinical practice
by: Barry Wolf
Published: (2016-03-01) -
Newborn Screening for Biotinidase Deficiency. The Experience of a Regional Center in Italy
by: Alice Maguolo, et al.
Published: (2021-05-01) -
Newborn screening for biotinidase deficiency in Brazil: biochemical and molecular characterizations
by: E. C. Neto, et al.
Published: (2004-03-01) -
Genotype-biochemical phenotype analysis in newborns with biotinidase deficiency in Southeastern Anatolia
by: Murat Karaoglan, et al.
Published: (2024-03-01)