Lysine-restricted diet as adjunct therapy for pyridoxine-dependent epilepsy: The PDE consortium consensus recommendations

JIMD Reports

Volumn 15, Issue , 2015, Pages 47-57

  van Karnebeek, Clara D M ^a,b   Stockler Ipsiroglu, Sylvia ^b   Jaggumantri, Sravan ^b   Assmann, Birgit ^c   Baxter, Peter ^d   Buhas, Daniela ^e   Bok, Levinus A ^f   Cheng, Barbara ^b   Coughlin, Curtis R ^m   Das, Anibh M ^h   Giezen, Alette ^b   Al Hertani, Wahla ^e   Ho, Gloria ^b   Meyer, Uta ^h   Mills, Philippa ^g   Plecko, Barbara ⁱ   Struys, Eduard ^j   Ueda, Keiko ^b   Albersen, Monique ^k   Verhoeven, Nanda ^k   Gospe, Sidney M ^l   Gallagher, Renata C ^m   Van Hove, Johan K L ^m   Hartmann, Hans ^h   more..

^a Centre for Molecular Medicine and Therapeutics   (Canada)

^b UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^c UNIVERSITY HOSPITAL HEIDELBERG   (Germany)

^d Western Bank   (United Kingdom)

^e MONTREAL CHILDREN S HOSPITAL   (Canada)

^f MÁXIMA MEDICAL CENTER   (Netherlands)

^g UNIVERSITY COLLEGE LONDON   (United Kingdom)

^h HANNOVER MEDICAL SCHOOL   (Germany)

ⁱ UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^j VU UNIVERSITY AMSTERDAM   (Netherlands)

^k UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^l UNIVERSITY OF WASHINGTON   (United States)

^m Children's Hospital Colorado   (United States)

more..

Author keywords

Express breast milk; Lysine content; Maple syrup urine disease; Pipecolic acid; Seizure control

Indexed keywords

EID: 85060302007     PISSN: 21928304     EISSN: 21928312     Source Type: Book Series    
DOI: 10.1007/8904_2014_296     Document Type: Chapter

References (27)

1. Basura GJ, Hagland SP, Wiltse AM, Gospe SM Jr (2009) 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 168:697–704
2. Baxter P (2001) Pyridoxine-dependent and pyridoxine-responsive seizures. Dev Med Child Neurol 43:416–420
3. Bender DA (1999) Non-nutritional uses of vitamin B6. Br J Nutr 81:7–20
4. Bok LA, Halbertsma FJ, Houterman S (2012) Long-term outcome in pyridoxine-dependent epilepsy. Dev Med Child Neurol 54:849–854
5. Dogan M, Dogan DG, Kahraman AS (2012) A 9-year follow-up of a girl with pyridoxine (vitamin B6)-dependent seizures: magnetic resonance spectroscopy findings. Eur Rev Med Pharmacol Sci 16:695–698
6. FAO/WHO/UNU (1985) Energy and protein requirements. In: Report of a joint FAO/WHO/UNU Expert Consultation, World Health Organization Technical Report Series no. 724. WHO, Geneva, Switzerland
7. Footitt EJ, Clayton PT, Mills K, Heales SJ, Neergheen V, Oppenheim M, Mills PB (2013) Measurement of plasma B6 vitamer profiles in children with inborn errors of vitamin B6 metabolism using an LC-MS/MS method. J Inherit Metab Dis 36:139–145
8. Francis DEM, Smith I (1981) Breast-feeding regimen for the treatment of infants with phenylketonuria. In: Bateman C (ed) Applied nutrition London. John Libbey, London, pp 82–83
9. Gospe SM Jr (2012) Natural history of pyridoxine-dependent epilepsy: tools for prognostication. Dev Med Child Neurol 54:781–782
10. Haenggeli CA, Girardin E, Paunier L (1991) Pyridoxine-dependent seizures, clinical and therapeutic aspects. Eur J Pediatr 150:452–455
11. Heringer J, Boy SP, Ensenauer R et al (2010) Use of guidelines improves the neurological outcome in glutaric aciduria type I. Ann Neurol 68:743–752
12. Jansen LA, Heyner RD, Roden WH (2013) Glial localization of antiquitin: implications for pyridoxine-dependent epilepsy. Ann Neurol PMID 24122892
13. Jung S, Tran NT, Gospe SM Jr, Hahn SH (2013) Preliminary investigation of the use of newborn dried blood spots for screening pyridoxine-dependent epilepsy by LC-MS/MS. Mol Genet Metab 110:237–240
14. Kölker S, Garbade SF, Greenberg CR et al (2006) Natural history, outcome, and treatment efficacy in children and adults with glutaryl-CoA dehydrogenase deficiency. Pediatr Res 59: 840–847
15. Kölker S, Christensen E, Leonard JV et al (2011) Diagnosis and management of glutaric aciduria type I–revised recommendations. J Inherit Metab Dis 34:677–694
16. Kölker S, Boy SP, Heringer J et al (2012) Complementary dietary treatment using lysine-free, arginine-fortified amino acid supplements in glutaric aciduria type I – a decade of experience. Mol Genet Metab 107:72–80
17. Mercimek-Mahmutoglu S, Donner EJ, Siriwardena K (2013) Normal plasma pipecolic acid level in pyridoxine dependent epilepsy due to ALD7A1 mutations. Mol Genet Metab 110:197
18. Mills PB, Struys E, Jakobs C et al (2006) Mutations in antiquitin in individuals with pyridoxine-dependent seizures. Nat Med 12:307–309
19. Mills PB, Footitt EJ, Mills KA et al (2010) Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 defi-ciency). Brain 133:2148–2159
20. Mills PB, Footitt EJ, Ceyhan S et al (2012) Urinary AASA excretion is elevated in patients with molybdenum cofactor deficiency and isolated sulphite oxidase deficiency. J Inherit Metab Dis 35:1031–1036
21. Nabbout R, Soufflet C, Plouin P, Dulac O (1999) Pyridoxine dependent epilepsy: a suggestive electroclinical pattern. Arch Dis Child Fetal Neonatal Ed 81:F125–F129
22. Niermeijer JMF, Abeling N, Koelman HJ (2012) Pyridoxine dependent epilepsy: clinical features and progressive serial brain MRI abnormalities. JIMD 35(Suppl):S136
23. Stockler S, Plecko B, Gospe SM Jr et al (2011) Pyridoxine dependent epilepsy and antiquitin deficiency: clinical and molecular characteristics and recommendations for diagnosis, treatment and follow-up. Mol Genet Metab 104:48–60
24. Stockler S, Moeslinger D, Herle M et al (2012) Cultural aspects in the management of inborn errors of metabolism. J Inherit Metab Dis 35:1147–1152
25. Strauss KA, Brumbaugh J, Duffy A et al (2011) Safety, efficacy and physiological actions of a lysine-free, arginine-rich formula to treat glutaryl-CoA dehydrogenase deficiency: focus on cerebral amino acid flux. Mol Genet Metab 104:93–106
26. van Karnebeek CD, Hartmann H, Jaggumantri S et al (2012) Lysine restricted diet for pyridoxine-dependent epilepsy: first evidence and future trials. Mol Genet Metab 107:335–344
27. Yannicelli S (2010) Nutrition management of patients with inherited disorders of organic acid metabolism. In: Acosta PB (ed) Nutrition management of patients with inherited metabolic disorders. Jones and Bartlett publishers, Boston, p 314