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. 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.

Keywords

• Biotinidase deficiency, respiratory failure, acidosis, respiratory

Kaynakça

1. 1. Wolf B. Disorders of biotin metabolism. In: Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The Metabolic and Molecular Bases of Inherited Disease. New York: McGraw-Hill; 2001:3935–62.
2. 2. Wolf B. The neurology of biotinidase deficiency. Mol Genet Metab 2011; 104:27–34. [CrossRef]
3. 3. Baykal T, Gokcay G, Gokdemir Y, Demir F, Seckin Y, Demirkol M, et al. Asymptomatic adults and older siblings with biotinidase deficiency ascertained by family studies of index cases. J Inherit Metab Dis 2005;28:903–12. [CrossRef]
4. 4. Wolf B. Biotinidase deficiency: “if you have to have an inherited metabolic disease, this is the one to have”. Genet Med 2012;14:565–57. [CrossRef]
5. 5. Wolf B. Biotinidase deficiency: new directions and practical concerns. Curr Treat Options Neurol 2003;5:321-8. [CrossRef]
6. 6. Möslinger D, Mühl A, Suormala T, Baumgartner R, StöcklerIpsiroglu S. Molecular characterisation and neuropsychological outcome of 21 patients with profound biotinidase deficiency detected by newborn screening and family studies. Eur J Pediatr 2003;162 Suppl 1:S46–9. [CrossRef]
7. 7. Rajendiran A, Sampath S. Biotinidase deficiency – clinching the diagnosis rapidly can make all the difference! BMJ Case Rep 2011;28. [CrossRef]
8. 8. Wolf B. Disorders of biotin metabolism. In: Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The Metabolic Basis of Inherited Disease. New York: McGraw-Hill; 1992:2083–103 (abstract).

9. 9. Berry GT. Inborn errors of carbohydrate, ammonia, amino acid and organic acid metabolism. In: Taeusch HW, Ballard RA, Gleason CA, editors. Avery’s Diseases of the Newborn. 8th Edition. Philadelphia: Saunders; 2005:242-3. [CrossRef]
10. 10. Koohmanaee S, Zarkesh M, Tabrizi M, Hassanzadeh Rad A, Divshali S, Dalili S. Biotinidase deficiency in newborns as respiratory distress and tachypnea: a case report. Iran J Child Neurol 2015;9:58–60.