Biotinidase deficiency with hypertonia as unusual feature.

Narendra Rathi, Manisha Rathi

Indian Pediatrics 2009 January

We report 3 cases of biotinidase deficiency presenting in early infancy with neurological and cutaneous manifestations. All of them had hypertonia (spasticity). Response to oral biotin was excellent. One of the cases showed 7D3I biotidase deficient mutation.

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