Current Treatment and Management of Pyridoxine-Dependent Epilepsy

Current Treatment Options in Neurology

Volumn 17, Issue 2, 2015, Pages

  van Karnebeek, Clara D M ^a,b,c,d,e   Jaggumantri, Sravan ^a,b,c,e  

^a BC CHILDREN S HOSPITAL   (Canada)

^b Treatable Intellectual Disability Endeavor in British Columbia (TIDE BC)   (Canada)

^c UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^d Centre for Molecular Medicine and Therapeutics   (Canada)

^e UNIVERSITY OF BRITISH COLUMBIA   (Canada)

Author keywords

ALDH7A1; Antiquitin (ATQ); Arginine; Diet; Lysine; Metabolic epilepsy; Vitamin B6

Indexed keywords

ANTIQUITIN; ARGININE; ENZYME; FOLINIC ACID; LYSINE; PYRIDOXAL 5 PHOSPHATE; PYRIDOXINE; UNCLASSIFIED DRUG;

ADD ON THERAPY; ANTIQUITIN DEFICIENCY; ANTISENSE THERAPY; AUTOSOMAL RECESSIVE DISORDER; DIET THERAPY; DOSE RESPONSE; DRUG MEGADOSE; ENTERAL DRUG ADMINISTRATION; EPILEPSY; HUMAN; LONG TERM CARE; LYSINE RESTRICTED DIET; METABOLIC DISORDER; NERVE CELL DIFFERENTIATION; PERINATAL PERIOD; PRENATAL PERIOD; PROPHYLAXIS; PYRIDOXINE DEPENDENT EPILEPSY; RARE DISEASE; RECOMMENDED DRUG DOSE; REVIEW; SEIZURE; TREATMENT OUTCOME; TREATMENT RESPONSE;

EID: 84922295326     PISSN: 10928480     EISSN: 15343138     Source Type: Journal    
DOI: 10.1007/s11940-014-0335-0     Document Type: Review

References (56)

1. Mills PB, Footitt EJ, Mills KA, et al. Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency). Brain. 2010;133:2148–59. Publication providing a detailed overview of the genotypic and (wide!) phenotypic spectrum of patients with PDE due to ATQ deficiency, along with their response to vitamin B6 treatment.
2. Pérez B, Gutiérrez-Solana LG, Verdú A, et al. Clinical, biochemical, and molecular studies in pyridoxine-dependent epilepsy. Antisense therapy as possible new therapeutic option. Epilepsia. 2013;54:239–48.
3. Hunt AD, Stokes J, McCrory WW, Stroud HH. Pyridoxine dependency: report of a case of intractable convulsions in an infant controlled by pyridoxine. Pediatrics. 1954;13:140–5.
4. Baxter P. Pyridoxine dependent and pyridoxine responsive seizures. In: Baxter P, ed. Vitamin responsive conditions in paediatric neurology. London: MacKeith Press; 200. pp 109–65.
5. Gospe Jr SM. Current perspectives on pyridoxine-dependent seizures. J Pediatr. 1998;132:919–23.
6. Gospe Jr SM. Pyridoxine-dependent seizures: findings from recent studies pose new questions. Pediatr Neurol. 2002;26:181–5.
7. Gospe Jr SM. Neonatal vitamin-responsive epileptic encephalopathies. Chang Gung Med J. 2010;33:1–12.
8. Haenggeli C-A, Girardin E, Paunier L. Pyridoxine-dependent seizures, clinical and therapeutic aspects. Eur J Pediatr. 1991;150:452–5.
9. Ebinger M, Schultze C, Konig S. Demographics and diagnosis of pyridoxine-dependent seizures. J Pediatr. 1999;134:795–6.
10. Been JV, Bok LA, Andriessen P, et al. Epidemiology of pyridoxine dependent seizures in the Netherlands. Arch Dis Child. 2005;90:1293–6.
11. Baxter P. Epidemiology of pyridoxine dependent and pyridoxine responsive seizures in the UK. Arch Dis Child. 1999;81:431–3.
12. Mills PB, Struys E, Jakobs C, et al. Mutations in antiquitin in individuals with pyridoxine-dependent seizures. Nat Med. 2006;12:307–9.
13. Gallagher RC, Van Hove JL, Scharer G, et al. Folinic acid-responsive seizures are identical to pyridoxine-dependent epilepsy. Ann Neurol. 2009;65:550–6.
14. Stockler S, Plecko B, Gospe Jr SM, et al. Pyridoxine dependent epilepsy and antiquitin deficiency: clinical and molecular characteristics and recommendations for diagnosis, treatment and follow-up. Mol Genet Metab. 2011;104:48–60. Mini review on Pyridoxine Dependent Epilepsy that explains the clinical presentation, pathophysiology, mutational spectrum, diagnostic markers, along with methods for screening and diagnosis of PDE and the treatment options with follow-up strategy.
15. Bankier A, Turner M, Hopkins IJ. Pyridoxine dependent seizures-a wider clinical spectrum. Arch Dis Child. 1983;58:415–8.
16. Bass NE, Wyllie E, Cohen B, et al. Pyridoxine-dependent epilepsy: the need for repeated pyridoxine trials and the risk of severe electrocerebral suppression with intravenous pyridoxine infusion. J Child Neurol. 1996;11:422–4.
17. 6-dependent epilepsy. Pediatrics. 1992;90:221–3.
18. Goutières F, Aicardi J. Atypical presentations of pyridoxine-dependent seizures: a treatable cause of intractable epilepsy in infants. Ann Neurol. 1985;17:117–20.
19. Basura GJ, Hagland SP, Wiltse AM, et al. Clinical features and the management of pyridoxine-dependent and pyridoxine-responsive seizures: review of 63 North American cases submitted to a patient registry. Eur J Pediatr. 2009;168:697–704.
20. Baxter P, Griffiths P, Kelly T, et al. Pyridoxine-dependent seizures: demographic, clinical, MRI and psychometric features, and effect of dose on intelligence quotient. Dev Med Child Neurol. 1996;38:998–1006.
21. Kluger G, Blank R, Paul K, et al. Pyridoxine-dependent epilepsy: normal outcome in a patient with late diagnosis after prolonged status epilepticus causing cortical blindness. Neuropediatrics. 2008;39:276–9.
22. 6-dependent seizures. Dev Med Child Neurol. 1999;41:203–6.
23. Nabbout R, Soufflet C, Plouin P, et al. Pyridoxinedependent epilepsy: a suggestive electroclinical pattern. Arch Dis Child Fetal Neonatal Ed. 1999;81:F125–9.
24. Baynes K, Tomaszewski Farias S, Gospe Jr SM. Pyridoxine-dependent seizures and cognition in adulthood. Dev Med Child Neurol. 2003;45:782–5.
25. Bok LA, Halbertsma FJ, Houterman S. Long-term outcome in pyridoxine-dependent epilepsy. Dev Med Child Neurol. 2012;54:849–54. Retrospective Study of PDE cohort of Dutch patients, evaluating the long-term outcome and correlations between patient characteristics and follow-up data.
26. Oliveira R, Pereira C, Rodrigues F, et al. Pyridoxine-dependent epilepsy due to antiquitin deficiency: achieving a favourable outcome. Epileptic Disord. 2013;15:400–6.
27. Scharer G, Brocker C, Vasiliou V, et al. The genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy due to mutations in ALDH7A1. J Inherit Metab Dis. 2010;33:571–81.
28. Struys EA, Nota B, Bakkali A, et al. Pyridoxine-dependent epilepsy with elevated urinary α-amino adipic semialdehyde in molybdenum cofactor deficiency. Pediatrics. 2012;130:1716–9.
29. Mills PB, Footitt EJ, Ceyhan S, et al. Urinary AASA excretion is elevated in patients with molybdenum cofactor deficiency and isolated sulphite oxidase deficiency. J Inherit Metab Dis. 2012;35:1031–6.
30. McLachlan RS, Brown WF. Pyridoxine dependent epilepsy with iatrogenic sensory neuronopathy. Can J Neurol Sci. 1995;22:50–1.
31. Rankin PM, Harrison S, Chong WK, et al. Pyridoxine-dependent seizures: a family phenotype that leads to severe cognitive deficits, regardless of treatment regime. Dev Med Child Neurol. 2007;49:300–5.
32. Baxter P, Aicardi J. Neonatal seizures after pyridoxine use [letter]. Lancet. 1999;354:2082–3.
33. Bok LA, Been JV, Struys EA, et al. Antenatal treatment in two Dutch families with pyridoxine-dependent seizures. Eur J Pediatr. 2010;169:297–303.
34. Clayton PT. B6-responsive disorders: a model of vitamin dependency. J Inherit Metab Dis. 2006;29:317–26.
35. Hammen A, Wagner B, Berkhoff M, et al. A paradoxical rise of neonatal seizures after treatment with vitamin B6. Eur J Paediatr Neurol. 1998;2:319–22.
36. Hartmann H, Fingerhut M, Jakobs C, et al. Status epilepticus in a newborn treated with pyridoxine due to familial recurence risk for antiqutin deficiency-pyridoxine toxicity? Dev Med Child Neurol. 2011;53:1150–3.
37. Hoffmann GF, Schmitt B, Windfuhr M, et al. Pyridoxal 5′-phosphate may be curative in early-onset epileptic encephalopathy. J Inherit Metab Dis. 2007;30:96–9.
38. Bagci S, Zschocke J, Hoffmann GF, et al. Pyridoxal phosphate-dependent neonatal epileptic encephalopathy. Arch Dis Child Fetal Neonatal Ed. 2008;93:F151–2.
39. 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;90:512–5.
40. Mills PB, Camuzeaux SS, Footitt EJ, et al. Epilepsy due to PNPO mutations: genotype, environment and treatment affect presentation and outcome. Brain. 2014;137:1350–60.
41. Plecko B, Paul K, Mills P, et al. Pyridoxine responsiveness in novel mutations of the PNPO gene. Neurology. 2014;82:1425–33.
42. Kouyoumdjian JC, Ebadi J. Anticonvulsant activity of muscimol and gamma-aminobutyric acid against pyridoxal phosphate-induced seizures. J Neurochem. 1981;36:251–7.
43. Gospe Jr SM. Pyridoxine-dependent seizures: new genetic and biochemical clues to help with diagnosis and treatment. Curr Opin Neurol. 2006;19:148–53.
44. van Karnebeek CD, Hartmann H, Jaggumantri S, et al. Lysine restricted diet for pyridoxine-dependent epilepsy: first evidence and future trials. Mol Genet Metab. 2012;107:335–44. Outlines the results of an open-labeled observational study—first evidence of a positive effect of the lysine-restricted diet as a novel adjunct treatment for PDE.
45. Stockler S, Moeslinger D, Herle M, et al. Cultural aspects in the management of inborn errors of metabolism. J Inherit Metab Dis. 2012;35:1147–52.
46. van Karnebeek CD, Stockler-Ipsiroglu S, Jaggumantri S, et al. Lysine-restricted diet as adjunct therapy for pyridoxine-dependent epilepsy: the PDE consortium consensus recommendations. JIMD Rep. 2014;15:1-11. Publication providing detailed recommendations for treatment of PDE with lysine-restricted diet—management strategy, monitoring and follow up- based on PDE consortium consensus.
47. Kolker S, Christensen E, Leonard JV, et al. Diagnosis and management of glutaric aciduria type I—revised recommendations. J Inherit Metab. 2011;34:677–94.
48. FAO/WHO/UNU. Energy and protein requirements. Geneva: Switzerland; 1985. 724.
49. Yannicelli S. Nutrition management of patients with inherited disorders of organic acid metabolism. In: Acosta PB, editor. Nutrition management of patients with inherited metabolic disorders. Boston: Jones and Bartlett publishers; 2010. p. 314.
50. Subcommittee on the Tenth Edition of the RDAs, Food and Nutrition Board, Commission on Life Sciences National Research Council. Recommended Dietary Allowances. 10 edn. Washington, DC: National Academy Press; 1989.
51. Sauer SW, Opp S, Hoffmann GF, et al. Therapeutic modulation of cerebral L-lysine metabolism in a mouse model for glutaric aciduria type I. Brain. 2011;134:157–70.
52. Kölker S, Boy SP, Heringer J, et al. Complementary dietary treatment using lysine-free, arginine-fortified amino acid supplements in glutaric aciduria type I—a decade of experience. Mol Genet Metab. 2012;107:72–80.
53. Mercimek-Mahmutoglu S, Cordeiro D, Cruz V, et al. Novel therapy for pyridoxine dependent epilepsy due to ALDH7A1 genetic defect: l-arginine supplementation alternative to lysine-restricted diet. Eur J Paediatr Neurol. 2014. doi:10.1016/j.ejpn.2014.07.001.
54. Shuen AY, Coughlin 2nd CR, Lefrancois M, et al. Combined triple therapy trial of pyridoxine lysine restricted diet and arginine supplementation in four patients with pyridoxine-dependent epilepsy. Mol Genet Metab. 2014;111:215–302.
55. van Karnebeek CD, Stockler S. Treatable inborn errors of metabolism causing intellectual disability: a systematic literature review. Mol Genet Metab. 2012;105:368–81.
56. Jung S, Tran NT, Gospe Jr SM, et al. Preliminary investigation of the use of newborn dried blood spots for screening pyridoxine-dependent epilepsy by LC-MS/MS. Mol Genet Metab. 2013;110:237–40.