title: 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 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.
authors.affiliation: Department of Chemical Pathology, Southampton General Hospital, Tremona Road, Southampton SO16 6YD, UK.
authors.forename: V
authors.initials: V
authors.lastname: Walker
authors.forename: G A
authors.initials: GA
authors.lastname: Mills
authors.forename: S A
authors.initials: SA
authors.lastname: Peters
authors.forename: W L
authors.initials: WL
authors.lastname: Merton
mesh_terms: D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007223:Infant; D008659:Metabolic Diseases / Q000201:enzymology / Q000235:genetics; D011392:Proline / Q000235:genetics / Q000378:metabolism*; D011762:Pyrroline Carboxylate Reductases / Q000172:deficiency* / Q000235:genetics; D012640:Seizures / Q000209:etiology*; D026681:Vitamin B 6 Deficiency / Q000209:etiology*
chemical_list: D011392:Proline; D011762:Pyrroline Carboxylate Reductases