Fits, pyridoxine, and hyperprolinaemia type II
Open Access
- 1 March 2000
- journal article
- case report
- Published by BMJ in Archives of Disease in Childhood
- Vol. 82 (3) , 236-237
- https://doi.org/10.1136/adc.82.3.236
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.Keywords
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