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Complementary dietary treatment using lysine-free, arginine-fortified amino acid supplements in glutaric aciduria type I - A decade of experience.

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Complementary dietary treatment using lysine-free, arginine-fortified amino acid supplements in glutaric aciduria type I - A decade of experience. / Kölker, Stefan; Boy, S P Nikolas; Heringer, Jana; Müller, Edith; Maier, Esther M; Ensenauer, Regina; Mühlhausen, Chris; Schlune, Andrea; Greenberg, Cheryl R; Koeller, David M; Hoffmann, Georg F; Haege, Gisela; Burgard, Peter.

In: MOL GENET METAB, Vol. 107, No. 1-2, 1-2, 2012, p. 72-80.

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Harvard

Kölker, S, Boy, SPN, Heringer, J, Müller, E, Maier, EM, Ensenauer, R, Mühlhausen, C, Schlune, A, Greenberg, CR, Koeller, DM, Hoffmann, GF, Haege, G & Burgard, P 2012, 'Complementary dietary treatment using lysine-free, arginine-fortified amino acid supplements in glutaric aciduria type I - A decade of experience.', MOL GENET METAB, vol. 107, no. 1-2, 1-2, pp. 72-80. <http://www.ncbi.nlm.nih.gov/pubmed/22520952?dopt=Citation>

APA

Kölker, S., Boy, S. P. N., Heringer, J., Müller, E., Maier, E. M., Ensenauer, R., Mühlhausen, C., Schlune, A., Greenberg, C. R., Koeller, D. M., Hoffmann, G. F., Haege, G., & Burgard, P. (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(1-2), 72-80. [1-2]. http://www.ncbi.nlm.nih.gov/pubmed/22520952?dopt=Citation

Vancouver

Kölker S, Boy SPN, Heringer J, Müller E, Maier EM, Ensenauer R 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(1-2):72-80. 1-2.

Bibtex

@article{6d8dfb956a2641c8a7f4a97b075056f6,
title = "Complementary dietary treatment using lysine-free, arginine-fortified amino acid supplements in glutaric aciduria type I - A decade of experience.",
abstract = "The cerebral formation and entrapment of neurotoxic dicarboxylic metabolites (glutaryl-CoA, glutaric and 3-hydroxyglutaric acid) are considered to be important pathomechanisms of striatal injury in glutaric aciduria type I (GA-I). The quantitatively most important precursor of these metabolites is lysine. Recommended therapeutic interventions aim to reduce lysine oxidation (low lysine diet, emergency treatment to minimize catabolism) and to enhance physiologic detoxification of glutaryl-CoA via formation of glutarylcarnitine (carnitine supplementation). It has been recently shown in Gcdh(-/-) mice that cerebral lysine influx and oxidation can be modulated by arginine which competes with lysine for transport at the blood-brain barrier and the inner mitochondrial membrane [Sauer et al., Brain 134 (2011) 157-170]. Furthermore, short-term outcome of 12 children receiving arginine-fortified diet showed very promising results [Strauss et al., Mol. Genet. Metab. 104 (2011) 93-106]. Since lysine-free, arginine-fortified amino acid supplements (AAS) are commercially available and used in Germany for more than a decade, we evaluated the effect of arginine supplementation in a cohort of 34 neonatally diagnosed GA-I patients (median age, 7.43 years; cumulative follow-up period, 221.6 patient years) who received metabolic treatment according to a published guideline [K{\"o}lker et al., J. Inherit. Metab. Dis. 30 (2007) 5-22]. Patients used one of two AAS product lines during the first year of life, resulting in differences in arginine consumption [group 1 (Milupa Metabolics): mean=111 mg arginine/kg; group 2 (Nutricia): mean=145 mg arginine/kg; p",
keywords = "Humans, Male, Female, Treatment Outcome, Child, Child, Preschool, Infant, *Dietary Supplements, Brain/metabolism, Glutaryl-CoA Dehydrogenase/deficiency, Amino Acid Metabolism, Inborn Errors/diagnosis/*diet therapy, Arginine/blood/metabolism, Brain Diseases, Metabolic/diagnosis/*diet therapy, Lysine/blood/metabolism, Humans, Male, Female, Treatment Outcome, Child, Child, Preschool, Infant, *Dietary Supplements, Brain/metabolism, Glutaryl-CoA Dehydrogenase/deficiency, Amino Acid Metabolism, Inborn Errors/diagnosis/*diet therapy, Arginine/blood/metabolism, Brain Diseases, Metabolic/diagnosis/*diet therapy, Lysine/blood/metabolism",
author = "Stefan K{\"o}lker and Boy, {S P Nikolas} and Jana Heringer and Edith M{\"u}ller and Maier, {Esther M} and Regina Ensenauer and Chris M{\"u}hlhausen and Andrea Schlune and Greenberg, {Cheryl R} and Koeller, {David M} and Hoffmann, {Georg F} and Gisela Haege and Peter Burgard",
year = "2012",
language = "English",
volume = "107",
pages = "72--80",
journal = "MOL GENET METAB",
issn = "1096-7192",
publisher = "Academic Press Inc.",
number = "1-2",

}

RIS

TY - JOUR

T1 - Complementary dietary treatment using lysine-free, arginine-fortified amino acid supplements in glutaric aciduria type I - A decade of experience.

AU - Kölker, Stefan

AU - Boy, S P Nikolas

AU - Heringer, Jana

AU - Müller, Edith

AU - Maier, Esther M

AU - Ensenauer, Regina

AU - Mühlhausen, Chris

AU - Schlune, Andrea

AU - Greenberg, Cheryl R

AU - Koeller, David M

AU - Hoffmann, Georg F

AU - Haege, Gisela

AU - Burgard, Peter

PY - 2012

Y1 - 2012

N2 - The cerebral formation and entrapment of neurotoxic dicarboxylic metabolites (glutaryl-CoA, glutaric and 3-hydroxyglutaric acid) are considered to be important pathomechanisms of striatal injury in glutaric aciduria type I (GA-I). The quantitatively most important precursor of these metabolites is lysine. Recommended therapeutic interventions aim to reduce lysine oxidation (low lysine diet, emergency treatment to minimize catabolism) and to enhance physiologic detoxification of glutaryl-CoA via formation of glutarylcarnitine (carnitine supplementation). It has been recently shown in Gcdh(-/-) mice that cerebral lysine influx and oxidation can be modulated by arginine which competes with lysine for transport at the blood-brain barrier and the inner mitochondrial membrane [Sauer et al., Brain 134 (2011) 157-170]. Furthermore, short-term outcome of 12 children receiving arginine-fortified diet showed very promising results [Strauss et al., Mol. Genet. Metab. 104 (2011) 93-106]. Since lysine-free, arginine-fortified amino acid supplements (AAS) are commercially available and used in Germany for more than a decade, we evaluated the effect of arginine supplementation in a cohort of 34 neonatally diagnosed GA-I patients (median age, 7.43 years; cumulative follow-up period, 221.6 patient years) who received metabolic treatment according to a published guideline [Kölker et al., J. Inherit. Metab. Dis. 30 (2007) 5-22]. Patients used one of two AAS product lines during the first year of life, resulting in differences in arginine consumption [group 1 (Milupa Metabolics): mean=111 mg arginine/kg; group 2 (Nutricia): mean=145 mg arginine/kg; p

AB - The cerebral formation and entrapment of neurotoxic dicarboxylic metabolites (glutaryl-CoA, glutaric and 3-hydroxyglutaric acid) are considered to be important pathomechanisms of striatal injury in glutaric aciduria type I (GA-I). The quantitatively most important precursor of these metabolites is lysine. Recommended therapeutic interventions aim to reduce lysine oxidation (low lysine diet, emergency treatment to minimize catabolism) and to enhance physiologic detoxification of glutaryl-CoA via formation of glutarylcarnitine (carnitine supplementation). It has been recently shown in Gcdh(-/-) mice that cerebral lysine influx and oxidation can be modulated by arginine which competes with lysine for transport at the blood-brain barrier and the inner mitochondrial membrane [Sauer et al., Brain 134 (2011) 157-170]. Furthermore, short-term outcome of 12 children receiving arginine-fortified diet showed very promising results [Strauss et al., Mol. Genet. Metab. 104 (2011) 93-106]. Since lysine-free, arginine-fortified amino acid supplements (AAS) are commercially available and used in Germany for more than a decade, we evaluated the effect of arginine supplementation in a cohort of 34 neonatally diagnosed GA-I patients (median age, 7.43 years; cumulative follow-up period, 221.6 patient years) who received metabolic treatment according to a published guideline [Kölker et al., J. Inherit. Metab. Dis. 30 (2007) 5-22]. Patients used one of two AAS product lines during the first year of life, resulting in differences in arginine consumption [group 1 (Milupa Metabolics): mean=111 mg arginine/kg; group 2 (Nutricia): mean=145 mg arginine/kg; p

KW - Humans

KW - Male

KW - Female

KW - Treatment Outcome

KW - Child

KW - Child, Preschool

KW - Infant

KW - Dietary Supplements

KW - Brain/metabolism

KW - Glutaryl-CoA Dehydrogenase/deficiency

KW - Amino Acid Metabolism, Inborn Errors/diagnosis/diet therapy

KW - Arginine/blood/metabolism

KW - Brain Diseases, Metabolic/diagnosis/diet therapy

KW - Lysine/blood/metabolism

KW - Humans

KW - Male

KW - Female

KW - Treatment Outcome

KW - Child

KW - Child, Preschool

KW - Infant

KW - Dietary Supplements

KW - Brain/metabolism

KW - Glutaryl-CoA Dehydrogenase/deficiency

KW - Amino Acid Metabolism, Inborn Errors/diagnosis/diet therapy

KW - Arginine/blood/metabolism

KW - Brain Diseases, Metabolic/diagnosis/diet therapy

KW - Lysine/blood/metabolism

M3 - SCORING: Journal article

VL - 107

SP - 72

EP - 80

JO - MOL GENET METAB

JF - MOL GENET METAB

SN - 1096-7192

IS - 1-2

M1 - 1-2

ER -