Fits, pyridoxine, and hyperprolinaemia type II.
نویسندگان
چکیده
The rare inherited disorder hyperprolinaemia type II presents with fits in childhood, usually precipitated by infection. A diagnosis of hyperprolinaemia type II and vitamin B(6) 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.
منابع مشابه
Type II hyperprolinaemia in a pedigree of Irish travellers (nomads).
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ورودعنوان ژورنال:
- Archives of disease in childhood
دوره 82 3 شماره
صفحات -
تاریخ انتشار 2000