TY - CHAP
T1 - Lysine-restricted diet as adjunct therapy for pyridoxine-dependent epilepsy
T2 - The PDE consortium consensus recommendations
AU - van Karnebeek, Clara D.M.
AU - Stockler-Ipsiroglu, Sylvia
AU - Jaggumantri, Sravan
AU - Assmann, Birgit
AU - Baxter, Peter
AU - Buhas, Daniela
AU - Bok, Levinus A.
AU - Cheng, Barbara
AU - Coughlin, Curtis R.
AU - Das, Anibh M.
AU - Giezen, Alette
AU - Al-Hertani, Wahla
AU - Ho, Gloria
AU - Meyer, Uta
AU - Mills, Philippa
AU - Plecko, Barbara
AU - Struys, Eduard
AU - Ueda, Keiko
AU - Albersen, Monique
AU - Verhoeven, Nanda
AU - Gospe, Sidney M.
AU - Gallagher, Renata C.
AU - Van Hove, Johan K.L.
AU - Hartmann, Hans
N1 - Funding Information: Acknowledgments We gratefully acknowledge Mrs. Claire Sower-butt for text editing, Mrs. Ruth Giesbrecht (B.C. Children’s Hospital) for editorial assistance, and Dr. Beate Szczerbak (Nutricia Advanced Medical Nutrition) for supporting the 3rd PDE Consortium meeting (2013). CvK is supported by TIDE-BC, the 1st Collaborative Area of Innovation grant from BC Children’s Hospital Foundation, Vancouver, Canada. PM is supported by a grant from the GOSHCC Neuroscience Initiative. The content of this article has not been influenced by the funders/supporters. Publisher Copyright: © 2014, SSIEM and Springer-Verlag Berlin Heidelberg.
PY - 2015
Y1 - 2015
N2 - Background: Seventy-five percent of patients with pyridoxine-dependent epilepsy (PDE) due to Antiquitin (ATQ) deficiency suffer from developmental delay and/or intellectual disability (IQ < 70) despite seizure control. An observational study showed that adjunct treatment with a lysine-restricted diet is safe, results in partial normalization of lysine intermediates in body fluids, and may have beneficial effects on seizure control and psychomotor development. Methods: In analogy to the NICE guideline process, the international PDE Consortium, an open platform uniting scientists and clinicians working in the field of this metabolic epilepsy, during four workshops (2010–2013) developed a recommendation for a lysine-restricted diet in PDE, with the aim of standardizing its implementation and monitoring of patients. Additionally, a proposal for a further observational study is suggested. Results: (1) All patients with confirmed ATQ deficiency are eligible for adjunct treatment with lysine-restricted diet, unless treatment with pyridoxine alone has resulted in complete symptom resolution, including normal behavior and development. (2) Lysine restriction should be started as early as possible; the optimal duration remains undetermined. (3) The diet should be implemented and the patient be monitored according to these recommendations in order to assure best possible quality of care and safety. Discussion: The implementation of this recommendation will provide a unique and a much needed opportunity to gather data with which to refine the recommendation as well as improve our understanding of outcomes of individuals affected by this rare disease. We therefore propose an international observational study that would utilize freely accessible, online data sharing technologies to generate more evidence.
AB - Background: Seventy-five percent of patients with pyridoxine-dependent epilepsy (PDE) due to Antiquitin (ATQ) deficiency suffer from developmental delay and/or intellectual disability (IQ < 70) despite seizure control. An observational study showed that adjunct treatment with a lysine-restricted diet is safe, results in partial normalization of lysine intermediates in body fluids, and may have beneficial effects on seizure control and psychomotor development. Methods: In analogy to the NICE guideline process, the international PDE Consortium, an open platform uniting scientists and clinicians working in the field of this metabolic epilepsy, during four workshops (2010–2013) developed a recommendation for a lysine-restricted diet in PDE, with the aim of standardizing its implementation and monitoring of patients. Additionally, a proposal for a further observational study is suggested. Results: (1) All patients with confirmed ATQ deficiency are eligible for adjunct treatment with lysine-restricted diet, unless treatment with pyridoxine alone has resulted in complete symptom resolution, including normal behavior and development. (2) Lysine restriction should be started as early as possible; the optimal duration remains undetermined. (3) The diet should be implemented and the patient be monitored according to these recommendations in order to assure best possible quality of care and safety. Discussion: The implementation of this recommendation will provide a unique and a much needed opportunity to gather data with which to refine the recommendation as well as improve our understanding of outcomes of individuals affected by this rare disease. We therefore propose an international observational study that would utilize freely accessible, online data sharing technologies to generate more evidence.
KW - Express breast milk
KW - Lysine content
KW - Maple syrup urine disease
KW - Pipecolic acid
KW - Seizure control
UR - http://www.scopus.com/inward/record.url?scp=85060302007&partnerID=8YFLogxK
U2 - https://doi.org/10.1007/8904_2014_296
DO - https://doi.org/10.1007/8904_2014_296
M3 - Chapter
T3 - JIMD Reports
SP - 47
EP - 57
BT - JIMD Reports
PB - Springer
ER -