CIRCULATING AMINO ACIDS UNDER KETOGENIC DIETARY TREATMENT IN CHILDREN WITH REFRACTORY EPILEPSY AND INHERITED METABOLIC DISEASE: A RETROSPECTIVE STUDY.

Alexander Höller; Beate Jahn; Anna Katharina Schönlaub; Lucia Schwärzler; Daniela Karall; Paul Klingler; Sibylle Puntscher; Bernhard Erich Pfeifer; Uwe Siebert; Günter Schreier; Sabine Scholl-Bürgi

CIRCULATING AMINO ACIDS UNDER KETOGENIC DIETARY TREATMENT IN CHILDREN WITH REFRACTORY EPILEPSY AND INHERITED METABOLIC DISEASE: A RETROSPECTIVE STUDY.

Alexander Höller (Author and Speaker)
, Beate Jahn
, Anna Katharina Schönlaub
, Lucia Schwärzler
, Daniela Karall
, Paul Klingler
, Sibylle Puntscher
, Bernhard Erich Pfeifer
, Uwe Siebert
, Günter Schreier
, Sabine Scholl-Bürgi

Digital Health Information Systems

Medical University of Innsbruck
UMIT TIROL - Private University For Health Sciences and Health Technology
Harvard T.H. Chan School of Public Health

Research output: Poster presentation without proceedings

Abstract

Background
Changes in circulating plasma amino acids (pAA) may be associated with potential anti-seizure effects of ketogenic
dietary treatment (KDT). We aim to analyze alterations in specific pAA concentrations (alanine (ala), glycine (gly),
glutamine (gln), isoleucine (ile), leucine (leu), valine (val), lysine (lys)) and to investigate the effect of KDT on their
respective changes.
Case Study/Methods
Routinely collected data from 53 patients before and after onset of KDT between 01/01/2010 and 12/31/2020 were
grouped in ten three-month follow-up intervals and analyzed retrospectively. Generalized estimating equations (GEE)
were used to investigate the effect of KDT on changes in pAA concentrations. Metabolites were determined by ion
exchange chromatography with post-column derivatization with ninhydrine (Biochrom 30+, Laborservice Onken,
Germany). β-hydroxybutyric acid was measured via enzymatic essays (Wako Chemicals, Germany).
Results
We report specific alterations in pAA in 53 patients (26/49% male, 27/51% female) undergoing KDT (10/19% classical KDT,
43/81% modified Atkins diet) due to structural anomaly (n=6/11%), metabolic disease (n=7/13%), genetic disease
(n=11/21%), epileptic syndrome (n=26/49%) and unclear primary diagnosis (n=3/6%). KDT led to ketosis, and tests of
model effects from GEE show a significant effect of KDT on ile, leu, val, lys, gly, ala and gln (p<0.001) over the subsequent
follow-up measurements. Effects of pairwise comparison were mainly significant for ile, leu, val, ala and gln.
Discussion/Conclusion
In our cohort, a significant effect of KDT on specific pAA was shown. These metabolic adaptions may be linked to
stabilizing mechanisms of action in patients with refractory epilepsy and inherited metabolic disease. As the mechanistic
effects of KDT are not yet fully understood, further investigations in prospective randomized trials comprising complete
metabolomic assessment in addition to classical clinical endpoints, coupled with causal mediation analysis are needed.

Original language	English
Pages	130-130
Number of pages	1
Publication status	Published - 20 Aug 2024
Event	Annual Symposium of the Society for the Study of Inborn Errors of Metabolism 2024 - Porto, Porto, Portugal Duration: 3 Sept 2024 → 6 Sept 2024 https://www.ssiem2024.org/

Conference

Conference	Annual Symposium of the Society for the Study of Inborn Errors of Metabolism 2024
Abbreviated title	SSIEM
Country/Territory	Portugal
City	Porto
Period	3/09/24 → 6/09/24
Internet address	https://www.ssiem2024.org/

Research Field

Exploration of Digital Health

Access to Document

https://onlinelibrary.wiley.com/toc/15732665/2024/47/S1

Cite this

Höller, A., Jahn, B., Schönlaub, A. K., Schwärzler, L., Karall, D., Klingler, P., Puntscher, S., Pfeifer, B. E., Siebert, U., Schreier, G., & Scholl-Bürgi, S. (2024). CIRCULATING AMINO ACIDS UNDER KETOGENIC DIETARY TREATMENT IN CHILDREN WITH REFRACTORY EPILEPSY AND INHERITED METABOLIC DISEASE: A RETROSPECTIVE STUDY.. 130-130. Paper presented at Annual Symposium of the Society for the Study of Inborn Errors of Metabolism 2024, Porto, Portugal. https://onlinelibrary.wiley.com/toc/15732665/2024/47/S1

@conference{fe9e331ab1104ed6898d4d596fdd8502,

title = "CIRCULATING AMINO ACIDS UNDER KETOGENIC DIETARY TREATMENT IN CHILDREN WITH REFRACTORY EPILEPSY AND INHERITED METABOLIC DISEASE: A RETROSPECTIVE STUDY.",

abstract = "Background Changes in circulating plasma amino acids (pAA) may be associated with potential anti-seizure effects of ketogenic dietary treatment (KDT). We aim to analyze alterations in specific pAA concentrations (alanine (ala), glycine (gly), glutamine (gln), isoleucine (ile), leucine (leu), valine (val), lysine (lys)) and to investigate the effect of KDT on their respective changes. Case Study/Methods Routinely collected data from 53 patients before and after onset of KDT between 01/01/2010 and 12/31/2020 were grouped in ten three-month follow-up intervals and analyzed retrospectively. Generalized estimating equations (GEE) were used to investigate the effect of KDT on changes in pAA concentrations. Metabolites were determined by ion exchange chromatography with post-column derivatization with ninhydrine (Biochrom 30+, Laborservice Onken, Germany). β-hydroxybutyric acid was measured via enzymatic essays (Wako Chemicals, Germany). Results We report specific alterations in pAA in 53 patients (26/49\% male, 27/51\% female) undergoing KDT (10/19\% classical KDT, 43/81\% modified Atkins diet) due to structural anomaly (n=6/11\%), metabolic disease (n=7/13\%), genetic disease (n=11/21\%), epileptic syndrome (n=26/49\%) and unclear primary diagnosis (n=3/6\%). KDT led to ketosis, and tests of model effects from GEE show a significant effect of KDT on ile, leu, val, lys, gly, ala and gln (p<0.001) over the subsequent follow-up measurements. Effects of pairwise comparison were mainly significant for ile, leu, val, ala and gln. Discussion/Conclusion In our cohort, a significant effect of KDT on specific pAA was shown. These metabolic adaptions may be linked to stabilizing mechanisms of action in patients with refractory epilepsy and inherited metabolic disease. As the mechanistic effects of KDT are not yet fully understood, further investigations in prospective randomized trials comprising complete metabolomic assessment in addition to classical clinical endpoints, coupled with causal mediation analysis are needed.",

author = "Alexander H{\"o}ller and Beate Jahn and Sch{\"o}nlaub, \{Anna Katharina\} and Lucia Schw{\"a}rzler and Daniela Karall and Paul Klingler and Sibylle Puntscher and Pfeifer, \{Bernhard Erich\} and Uwe Siebert and G{\"u}nter Schreier and Sabine Scholl-B{\"u}rgi",

year = "2024",

month = aug,

day = "20",

language = "English",

pages = "130--130",

note = "Annual Symposium of the Society for the Study of Inborn Errors of Metabolism 2024, SSIEM ; Conference date: 03-09-2024 Through 06-09-2024",

url = "https://www.ssiem2024.org/",

}

Höller, A, Jahn, B, Schönlaub, AK, Schwärzler, L, Karall, D, Klingler, P, Puntscher, S, Pfeifer, BE, Siebert, U, Schreier, G & Scholl-Bürgi, S 2024, 'CIRCULATING AMINO ACIDS UNDER KETOGENIC DIETARY TREATMENT IN CHILDREN WITH REFRACTORY EPILEPSY AND INHERITED METABOLIC DISEASE: A RETROSPECTIVE STUDY.', Paper presented at Annual Symposium of the Society for the Study of Inborn Errors of Metabolism 2024, Porto, Portugal, 3/09/24 - 6/09/24 pp. 130-130. <https://onlinelibrary.wiley.com/toc/15732665/2024/47/S1>

CIRCULATING AMINO ACIDS UNDER KETOGENIC DIETARY TREATMENT IN CHILDREN WITH REFRACTORY EPILEPSY AND INHERITED METABOLIC DISEASE: A RETROSPECTIVE STUDY. / Höller, Alexander (Author and Speaker); Jahn, Beate; Schönlaub, Anna Katharina et al.
2024. 130-130 Paper presented at Annual Symposium of the Society for the Study of Inborn Errors of Metabolism 2024, Porto, Portugal.

Research output: Poster presentation without proceedings

TY - CONF

T1 - CIRCULATING AMINO ACIDS UNDER KETOGENIC DIETARY TREATMENT IN CHILDREN WITH REFRACTORY EPILEPSY AND INHERITED METABOLIC DISEASE: A RETROSPECTIVE STUDY.

AU - Jahn, Beate

AU - Schönlaub, Anna Katharina

AU - Schwärzler, Lucia

AU - Karall, Daniela

AU - Klingler, Paul

AU - Puntscher, Sibylle

AU - Pfeifer, Bernhard Erich

AU - Siebert, Uwe

AU - Schreier, Günter

AU - Scholl-Bürgi, Sabine

A2 - Höller, Alexander

PY - 2024/8/20

Y1 - 2024/8/20

N2 - Background Changes in circulating plasma amino acids (pAA) may be associated with potential anti-seizure effects of ketogenic dietary treatment (KDT). We aim to analyze alterations in specific pAA concentrations (alanine (ala), glycine (gly), glutamine (gln), isoleucine (ile), leucine (leu), valine (val), lysine (lys)) and to investigate the effect of KDT on their respective changes. Case Study/Methods Routinely collected data from 53 patients before and after onset of KDT between 01/01/2010 and 12/31/2020 were grouped in ten three-month follow-up intervals and analyzed retrospectively. Generalized estimating equations (GEE) were used to investigate the effect of KDT on changes in pAA concentrations. Metabolites were determined by ion exchange chromatography with post-column derivatization with ninhydrine (Biochrom 30+, Laborservice Onken, Germany). β-hydroxybutyric acid was measured via enzymatic essays (Wako Chemicals, Germany). Results We report specific alterations in pAA in 53 patients (26/49% male, 27/51% female) undergoing KDT (10/19% classical KDT, 43/81% modified Atkins diet) due to structural anomaly (n=6/11%), metabolic disease (n=7/13%), genetic disease (n=11/21%), epileptic syndrome (n=26/49%) and unclear primary diagnosis (n=3/6%). KDT led to ketosis, and tests of model effects from GEE show a significant effect of KDT on ile, leu, val, lys, gly, ala and gln (p<0.001) over the subsequent follow-up measurements. Effects of pairwise comparison were mainly significant for ile, leu, val, ala and gln. Discussion/Conclusion In our cohort, a significant effect of KDT on specific pAA was shown. These metabolic adaptions may be linked to stabilizing mechanisms of action in patients with refractory epilepsy and inherited metabolic disease. As the mechanistic effects of KDT are not yet fully understood, further investigations in prospective randomized trials comprising complete metabolomic assessment in addition to classical clinical endpoints, coupled with causal mediation analysis are needed.

AB - Background Changes in circulating plasma amino acids (pAA) may be associated with potential anti-seizure effects of ketogenic dietary treatment (KDT). We aim to analyze alterations in specific pAA concentrations (alanine (ala), glycine (gly), glutamine (gln), isoleucine (ile), leucine (leu), valine (val), lysine (lys)) and to investigate the effect of KDT on their respective changes. Case Study/Methods Routinely collected data from 53 patients before and after onset of KDT between 01/01/2010 and 12/31/2020 were grouped in ten three-month follow-up intervals and analyzed retrospectively. Generalized estimating equations (GEE) were used to investigate the effect of KDT on changes in pAA concentrations. Metabolites were determined by ion exchange chromatography with post-column derivatization with ninhydrine (Biochrom 30+, Laborservice Onken, Germany). β-hydroxybutyric acid was measured via enzymatic essays (Wako Chemicals, Germany). Results We report specific alterations in pAA in 53 patients (26/49% male, 27/51% female) undergoing KDT (10/19% classical KDT, 43/81% modified Atkins diet) due to structural anomaly (n=6/11%), metabolic disease (n=7/13%), genetic disease (n=11/21%), epileptic syndrome (n=26/49%) and unclear primary diagnosis (n=3/6%). KDT led to ketosis, and tests of model effects from GEE show a significant effect of KDT on ile, leu, val, lys, gly, ala and gln (p<0.001) over the subsequent follow-up measurements. Effects of pairwise comparison were mainly significant for ile, leu, val, ala and gln. Discussion/Conclusion In our cohort, a significant effect of KDT on specific pAA was shown. These metabolic adaptions may be linked to stabilizing mechanisms of action in patients with refractory epilepsy and inherited metabolic disease. As the mechanistic effects of KDT are not yet fully understood, further investigations in prospective randomized trials comprising complete metabolomic assessment in addition to classical clinical endpoints, coupled with causal mediation analysis are needed.

M3 - Poster presentation without proceedings

SP - 130

EP - 130

T2 - Annual Symposium of the Society for the Study of Inborn Errors of Metabolism 2024

Y2 - 3 September 2024 through 6 September 2024

ER -

CIRCULATING AMINO ACIDS UNDER KETOGENIC DIETARY TREATMENT IN CHILDREN WITH REFRACTORY EPILEPSY AND INHERITED METABOLIC DISEASE: A RETROSPECTIVE STUDY.

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