{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T09:42:22Z","timestamp":1790934142638,"version":"4.1.0"},"reference-count":63,"publisher":"Wiley","issue":"2-3","license":[{"start":{"date-parts":[[2005,9,27]],"date-time":"2005-09-27T00:00:00Z","timestamp":1127779200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2006,4]]},"abstract":"<jats:title>Summary<\/jats:title>\n                  <jats:p>\n                    Pyridoxal phosphate is the cofactor for over 100 enzyme\u2010catalysed reactions in the body, including many involved in the synthesis or catabolism of neurotransmitters. Inadequate levels of pyridoxal phosphate in the brain cause neurological dysfunction, particularly epilepsy. There are several different mechanisms that lead to an increased requirement for pyridoxine and\/or pyridoxal phosphate. These include: (i) inborn errors affecting the pathways of B\n                    <jats:sub>6<\/jats:sub>\n                    vitamer metabolism; (ii) inborn errors that lead to accumulation of small molecules that react with pyridoxal phosphate and inactivate it; (iii) drugs that react with pyridoxal phosphate; (iv) coeliac disease, which is thought to lead to malabsorption of B\n                    <jats:sub>6<\/jats:sub>\n                    vitamers; (v) renal dialysis, which leads to increased losses of B\n                    <jats:sub>6<\/jats:sub>\n                    vitamers from the circulation; (vi) drugs that affect the metabolism of B\n                    <jats:sub>6<\/jats:sub>\n                    vitamers; and (vii) inborn errors affecting specific pyridoxal phosphate\u2010dependent enzymes. The last show a very variable degree of pyridoxine responsiveness, from 90% in X\u2010linked sideroblastic anaemia (\u03b4\u2010aminolevulinate synthase deficiency) through 50% in homocystinuria (cystathionine \u03b2\u2010synthase deficiency) to 5% in ornithinaemia with gyrate atrophy (ornithine \u03b4\u2010aminotransferase deficiency). The possible role of pyridoxal phosphate as a chaperone during folding of nascent enzymes is discussed. High\u2010dose pyridoxine or pyridoxal phosphate may have deleterious side\u2010effects (particularly peripheral neuropathy with pyridoxine) and this must be considered in treatment regimes. None the less, in some patients, particularly infants with intractable epilepsy, treatment with pyridoxine or pyridoxal phosphate can be life\u2010saving, and in other infants with inborn errors of metabolism B\n                    <jats:sub>6<\/jats:sub>\n                    treatment can be extremely beneficial.\n                  <\/jats:p>","DOI":"10.1007\/s10545-005-0243-2","type":"journal-article","created":{"date-parts":[[2006,6,8]],"date-time":"2006-06-08T23:09:10Z","timestamp":1149808150000},"page":"317-326","source":"Crossref","is-referenced-by-count":249,"title":["B\n                    <sub>6<\/sub>\n                    \u2010responsive disorders: A model of vitamin dependency"],"prefix":"10.1002","volume":"29","author":[{"given":"Peter T.","family":"Clayton","sequence":"first","affiliation":[{"name":"Biochemistry, Endocrinology and Metabolism Institute of Child Health  30 Guilford St London WC1N 1 EH 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