Fits, pyridoxine, and hyperprolinaemia type II.
case_report · Level V
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- Record sourced from PubMed, PMID 10685929.
- Also identified by PMC identifier 1718242.
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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 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.
Medical subject headings
- Proline
- Pyrroline Carboxylate Reductases
- Seizures
- Vitamin B 6 Deficiency