Biotinidase deficiency should be considered in the differential diagnosis of myelopathy

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In this review, B. Wolf highlights the importance of considering biotinidase deficiency in the differential diagnosis of myelopathy. He reviews 18 previously reported patients who presented with spastic para- or tetraplegia due to myelopathy with and without vision loss and were ultimately diagnosed with profound biotinidase deficiency, but often after a prolonged diagnostic odyssey resulting in residual neurological damage or even death. I was particularly struck with the great variability in age of onset (from 16 months to 22 years), as well as with the fact that some of the patients were found to have elevated oligoclonal bands and immunoglobulin G concentrations in their cerebral spinal fluid, misleadingly suggesting an inflammatory diagnosis. The article makes a convincing case for considering biotinidase deficiency early in any patient with myelopathy (including adult patients), even in the presence of elevated oligoclonal bands and immunoglobulin G concentrations.

Wolf B (2015) Biotinidase deficiency should be considered in individuals exhibiting myelopathy with or without and vision loss. Mol Genet Metab 116: 113-118.

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