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.
Original language | English |
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Pages (from-to) | 236-237 |
Number of pages | 2 |
Journal | Archives of Disease in Childhood |
Volume | 82 |
Issue number | 3 |
DOIs | |
Publication status | Published - Mar 2000 |