Biotidinase deficiency: clinical features
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Biotidinase deficiency: clinical features. This is caused by mutations in the biotidinase (BDN) gene on chromosome 3p.
Genetics and pathology
- This is caused by mutations in the biotidinase (BDN) gene on chromosome 3p
- The transmission is autosomal recessive
- Biotidinase is a water-soluble vitamin that is a coenzyme for carboxylases
- It is involved in carbohydrate, fatty acid, and protein metabolism
- The mutation results in an increase in acylcarnitine levels
Central neurological features
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Peripheral neurological features
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Dermatological features
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Ophthalmic features
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Metabolic features
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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.
- Deschamps R, Savatovsky J, Vignal C, et al. Adult-onset biotinidase deficiency: two individuals with severe, but reversible optic neuropathy. JNNP 2018; 89:1009-1010.
- Girard B, Bonnemains C, Schmitt E, Raffo E, Bilbault C. Biotinidase deficiency mimicking neuromyelitis optica beginning at the age of 4: a treatable disease. Mult Scler 2017; 23:119-122.
- 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.
- 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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