Fits, pyridoxine, and hyperprolinaemia type II.
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.
Walker
V
V
Department of Chemical Pathology, Southampton General Hospital, Tremona Road, Southampton SO16 6YD, UK.
Mills
G A
GA
Peters
S A
SA
Merton
W L
WL
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*
D011392:Proline; D011762:Pyrroline Carboxylate Reductases