Biotidinase deficiency: investigations
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Biotidinase deficiency: investigations. Longitudinally extensive transverse myelitis (LETM), Optic neuritis. Fully referenced neurology checklist.
Magnetic resonance imaging (MRI): features
- Longitudinally extensive transverse myelitis (LETM)
- Optic neuritis
- Cerebral atrophy
MR spectroscopy: features
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Positron emission tomography (PET) scan
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Dried blood test for biotidinase enzyme activity
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Organic acid levels increased in serum and urine
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Other investigations
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References
- 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.
- 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.
- 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.
- Chamney S, Jothi VG, McLoone E. Biotinidase deficiency, bilateral optic atrophy, and a visual field defect. Neuroophthalmology 2013; 37:251-253.
- 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.
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