Fits, pyridoxine, and hyperprolinaemia type II
- aDepartment of Chemical Pathology, Southampton General Hospital, Tremona Road, Southampton SO16 6YD, UK, bSchool of Pharmacy and Biological Sciences, University of Portsmouth, White Swan Road, Portsmouth PO1 2DT, UK, cDepartment of Paediatrics, St Mary's Hospital, Milton Road, Portsmouth PO3 6AD, UK, dDepartment of Neurophysiology, St Mary's Hospital
- Dr Walker
- Accepted 22 November 1999
Abstract
The rare inherited disorder hyperprolinaemia type II presents with fits in childhood, usually precipitated by infection. A diagnosis of hyperprolinaemia type II and vitamin B6 deficiency was made in a well nourished child with fits. It is thought that pyridoxine deficiency was implicated in her fits and was the result of inactivation of the vitamin by the proline metabolite, pyrroline-5-carboxylate.
