Pyridoxine-dependent seizures: New genetic and biochemical clues to help with diagnosis and treatment

Current Opinion in Neurology

Volumn 19, Issue 2, 2006, Pages 148-153

  Gospe Jr , Sidney M ^a,b  

^a UNIVERSITY OF WASHINGTON   (United States)

^b SEATTLE CHILDREN S RESEARCH INSTITUTE   (United States)

Author keywords

Pipecolic acid; Pyridoxal phosphate; Pyridoxine dependent epilepsy; Pyridoxine dependent seizures; Vitamin B6

Indexed keywords

4 AMINOBUTYRIC ACID; ANTICONVULSIVE AGENT; BIOLOGICAL MARKER; GLUTAMATE DECARBOXYLASE; PIPECOLIC ACID; PYRIDOXAL; PYRIDOXAL 5 PHOSPHATE; PYRIDOXAMINE PHOSPHATE OXIDASE; PYRIDOXINE;

DISEASE MARKER; DRUG PROTEIN BINDING; DRUG RESISTANCE; EPILEPSY; EPILEPTIC STATE; GENE IDENTIFICATION; GENE MUTATION; GENETIC HETEROGENEITY; GENETIC LINKAGE; HAPLOTYPE; HUMAN; INFANTILE SPASM; INTRACTABLE EPILEPSY; REVIEW; SEIZURE;

BIOLOGICAL MARKERS; HUMANS; PIPECOLIC ACIDS; PYRIDOXINE; SEIZURES; VITAMIN B 6 DEFICIENCY;

EID: 33645061291     PISSN: 13507540     EISSN: None     Source Type: Journal    
DOI: 10.1097/01.wco.0000218230.81301.12     Document Type: Review

References (35)

1. Baxter P. Pyridoxine dependent and pyridoxine responsive seizures. In: Baxter P, editor. Vitamin responsive conditions in paediatric neurology. London: MacKeith Press; 2001. pp. 109-165.
2. Been JV, Bok JA, Andriessen P, Renier WO. Epidemiology of pyridoxine-dependent seizures in The Netherlands. Arch Dis Child 2005 (Epub ahead of print).
3. Baxter P. Pyridoxine-dependent and pyridoxine-responsive seizures. Dev Med Child Neurol 2001; 43:416-420.
4. Baxter P. Pyridoxine-dependent seizures: a clinical and biochemical conundrum. Biochim Biophys Acta 2003; 1647:36-41.
5. Gospe SM Jr. Current perspectives on pyridoxine-dependent seizures. J Pediatr 1998; 132:919-923.
6. Gospe SM Jr. Pyridoxine-dependent seizures: findings from recent studies pose new questions. Pediatr Neurol 2002; 26:181-185.
7. Rajesh R, Girija AS. Pyridoxine-dependent seizures: a review. Indian Pediatr 2003; 40:633-638.
8. Alkan A, Kutlu R, Aslan M, et al. Pyridoxine-dependent seizures: magnetic resonance spectroscopy findings. J Child Neurol 2004; 19:75-78.
9. Baynes K, Tomaszewski Farias S, Gospe SM Jr. Pyridoxine-dependent seizures and cognition in adulthood. Dev Med Child Neurol 2003; 45:782-785.
10. Mishra D, Gupta VK. Pyridoxine dependent and pyridoxine responsive seizures. Indian Pediatr 2005; 42:291-292.
11. Nunes ML, Mugnol F, Bica I, Fiori RM. Pyridoxine-dependent seizures associated with hypophosphatasia in a newborn. J Child Neurol 2002; 17:222-224.
12. 6 levels during pregnancy. Epilepsia 2004; 45:81-84.
13. Tan H, Kardas F, Büyükavc M, Karakelloǧlu C. Pyridoxine-dependent seizures and microcephaly. Pediatr Neurol 2004; 31:211-213.
14. Battaglioli G, Rosen DR, Gospe SM Jr, Martin DL. Glutamate decarboxylase is not genetically linked to pyridoxine-dependent seizures. Neurology 2000; 55:309-311.
15. Cormier-Daire V, Dagoneau N, Nabbout R, et al. A gene for pyridoxine-dependent epilepsy maps to chromosome 5q31. Am J Hum Genet 2000; 67:991-993.
16. 6. In: Nutritional biochemistry of the vitamins, 2nd ed. Cambridge: Cambridge University Press; 2003. pp. 232-269.
17. Baxter P. Epidemiology of pyridoxine dependent and pyridoxine responsive seizures in the UK. Arch Dis Child 1999; 81:431-433.
18. Clayton PT, Surtees RAH, DeVile C, et al. Neonatal epileptic encephalopathy. Lancet 2003; 361:1614.
19. Kuo MF, Wang HS. Pyridoxal phosphate-responsive epilepsy with resistance to pyridoxine. Pediatr Neurol 2002; 26:146-147.
20. Mills PB, Surtees RAH, Champion MP, et al. Neonatal epileptic encephalopathy caused by mutations in the PNPO gene encoding pyridox (am)ine 5′-phosphate oxidase. Human Mol Genet 2005; 14:1077-1086. Report of the discovery of the genetic abnormality that underlies neonatal epileptic encephalopathy. This condition is differentiated from pyridoxine-dependent seizures by its severe clinical features, and its response to pyridoxal phosphate rather than to pyridoxine.
21. Wang H-S, Chou M-L, Hung P-C, et al. Pyridoxal phosphate is better than pyridoxine for controlling idiopathic intractable epilepsy. Arch Dis Child 2005; 90:512-515. Clinical research study demonstrating that some children with intractable epilepsy achieve seizure control after the use of pyridoxal phosphate as opposed to pyridoxine. Responders included patients with infantile spasms as well as focal seizures.
22. Baxter P. Pyridoxine or pyridoxal phosphate for intractable seizures? Arch Dis Child 2005; 90:441-442.
23. 6-dependency and infantile convulsions. Pediatrics 1960; 26:62-74.
24. Bennett CL, Huynh HM, Chance PF, et al. Genetic heterogeneity for autosomal recessive pyridoxine-dependent seizures. Neurogenetics 2005; 6:143-149. Clinical genetics study demonstrating that one of six kindreds with pyridoxine-dependent seizures did not demonstrate linkage to the previously identified 5q31 locus. This suggests genetic heterogeneity for this disorder.
25. 6 in rabbit brain and choroid plexus. J Biol Chem 1977; 253:2373-2379.
26. Sakurai T, Asakura T, Matsuda M. Transport and metabolism of pyridoxine and pyridoxal in mice. J Nutr Sci Vitaminol 1987; 33:11-19.
27. Diaz GA, Banikazemi M, Oishi K, et al. Mutations in a new gene encoding a thiamine transporter cause thiamine-responsive megaloblastic anaemia syndrome. Nat Genet 1999; 22:309-312.
28. Fleming JC, Tartaglini E, Steinkamp MP, et al. The gene mutated in thiamine-responsive anaemia with diabetes and deafness (TRMA) encodes a functional thiamine transporter. Nat Genet 1999; 22:305-308.
29. Gong M, Yess J, Connolly T, et al. Molecular mechanisms of antifolate transport-deficiency in a methotrexate-resistant MOLT-3 human leukemia cell line. Blood 1997; 87:2494-2499.
30. Kobayashi H, Takemura Y, Ohnuma T. Variable expression of RFC1 in human leukemia cell lines resistant to antifolates. Cancer Lett 1998; 124: 135-142.
31. Said HM, Ortiz A, Ma TY. A carrier-mediated mechanism for pyridoxine uptake by human intestinal epithelial Caco-2 cells: regulation by a PKA-mediated pathway. Am J Physiol Cell Physiol 2003; 285:1219-1225.
32. +). Eukaryot Cell 2005; 4:319-326. Report of the gene encoding a pyridoxine transporter in yeast that shares similar physiological functions to a transporter identified in human intestinal cells.
33. Plecko B, Stöckler-Ipsiroglu S, Paschke E, et al. Pipecolic acid elevation in plasma and cerebrospinal fluid of two patients with pyridoxine-dependent epilepsy. Ann Neurol 2000; 48:121-125.
34. Plecko B, Hikel C, Korenke G-C, et al. Pipecolic acid as a diagnostic marker of pyridoxine-dependent epilepsy. Neuropediatrics 2005; 36:200-205. Pipecolic acid is elevated in both plasma and CSF of patients with pyridoxine-dependent seizures. This elevation persists long after pyridoxine treatment is initiated. Pipecolic acid elevations may serve as a diagnostic marker for patients with pyridoxine-dependent seizures.
35. Wolf NI, Bast T, Surtees R. Epilepsy in inborn errors of metabolism. Epileptic Disord 2005; 7:67-81. Review of various metabolic disorders (including pyridoxine dependency) that can present with intractable seizures in infancy and early childhood.