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Arch Dis Child 82:236-237 doi:10.1136/adc.82.3.236
  • Article

Fits, pyridoxine, and hyperprolinaemia type II

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.

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