Biotidinase deficiency: investigations

Evidence-based neurology checklist on biotidinase deficiency: investigations: Magnetic resonance imaging (MRI): features Longitudinally extensive transverse myelitis (LETM) Optic neuritis Cerebral atrophy MR spectroscopy: features Positron emission tomography (PET) scan Dried blood test for…

Magnetic resonance imaging (MRI): features

  • Longitudinally extensive transverse myelitis (LETM)
  • Optic neuritis
  • Cerebral atrophy

MR spectroscopy: features

Positron emission tomography (PET) scan

Dried blood test for biotidinase enzyme activity

Organic acid levels increased in serum and urine

Other investigations

References

  1. Yilmaz S, Serin M, Canda E, et al. A treatable cause of myelopathy and vision loss mimicking neuromyelitis optica spectrum disorder: late-onset biotinidase deficiency. Metab Brain Dis 2017; 32:675-678. 
  2. Desai S, Ganesan K, Hegde A. Biotinidase deficiency: a reversible metabolic encephalopathy. Neuroimaging and MR spectroscopic findings in a series of four patients. Pediatr Radiol 2008; 38:848-856. 
  3. Hayati AA, Wan-Hitam WH, Cheong MT, Yunus R, Shatriah I. Optic neuritis in a child with biotinidase deficiency: case report and literature review. Clin Ophthalmol 2012; 6:389-395.
  4. Chamney S, Jothi VG, McLoone E. Biotinidase deficiency, bilateral optic atrophy, and a visual field defect. Neuroophthalmology 2013; 37:251-253.
  5. Wolf B, Heard GS, Weissbecker KA, McVoy JR, Grier RE, Leshner RT. Biotinidase deficiency: initial clinical features and rapid diagnosis. Ann Neurol 1985; 18:614-617. 
  6. And 2 more. Subscribe to see the full list

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