Biotinidase Deficiency

Very similar to Pyridoxine Deficiency (PD) there is another very treatable cause of epilepsy in children, called Biotinidase Deficiency (BD). As children with PD require extremely high dosages of vitamin B6, infants and children with BD require large doses of biotin (vitamin H) typically in the 5-10mg a day range. The recommended daily intake for biotin is 5mcg, thus a dosage for someone diagnosed with BD is 5,000-10,000 times the RDI for the vitamin. Once a child has been diagnosed with the deficiency, they must stay on this high dosage of biotin for life - the lack of this enzyme requires a consistent high dosage to maintain proper levels in the body. All of the symptoms for BD are very similar to Pyridoxine Deficiency, including hypotonia, ataxia, seizures, developmental delay, eczema, and hearing loss. The enormously wide spectrum of epilepsy can have many causes - Biotinidase Deficiency can be one of those causes and has a very simple treatment. Early recognition of BD is critical, as delays in diagnosis can lead to developmental delay and can sometimes have permanent damaging effects.

Back in 2005, when Mira was born, Kansas had not adopted newborn testing for BD, thus Mira was not actually tested at birth. I happened to stumble on BD in all of my readings soon after her diagnosis and brought it up to her neurologist who thought it would be a good idea to have her tested. A simple blood draw ruled it out - her levels were normal, but she obviously had many of the symptoms of BD. Prior to the testing, we went ahead and put her on a large dosage of biotin for a few days until the results came in, but it did nothing for her seizures. We ruled out BD very early on in Mira's journey with epilepsy, nonetheless, I was glad to have found this very treatable cause of epilepsy as a potential cause, early on.