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Amino acid or protein metabolism disease with epilepsy

MedGen UID:
1842207
•Concept ID:
C5680894
•
Disease or Syndrome
Orphanet: ORPHA225689

Professional guidelines

PubMed

Management of Acetaminophen Poisoning in the US and Canada: A Consensus Statement.
Dart RC, Mullins ME, Matoushek T, Ruha AM, Burns MM, Simone K, Beuhler MC, Heard KJ, Mazer-Amirshahi M, Stork CM, Varney SM, Funk AR, Cantrell LF, Cole JB, Banner W, Stolbach AI, Hendrickson RG, Lucyk SN, Sivilotti MLA, Su MK, Nelson LS, Rumack BH
JAMA Netw Open 2023 Aug 1;6(8):e2327739. doi: 10.1001/jamanetworkopen.2023.27739. PMID: 37552484
Wilson Disease: Diagnosis, Treatment, and Follow-up.
Schilsky ML
Clin Liver Dis 2017 Nov;21(4):755-767. Epub 2017 Aug 10 doi: 10.1016/j.cld.2017.06.011. PMID: 28987261
Clinical practice: the management of hyperammonemia.
Häberle J
Eur J Pediatr 2011 Jan;170(1):21-34. Epub 2010 Dec 17 doi: 10.1007/s00431-010-1369-2. PMID: 21165747

Recent clinical studies

Etiology

Developmental and epileptic encephalopathies.
Scheffer IE, Zuberi S, Mefford HC, Guerrini R, McTague A
Nat Rev Dis Primers 2024 Sep 5;10(1):61. doi: 10.1038/s41572-024-00546-6. PMID: 39237642
Epileptogenesis in tuberous sclerosis complex-related developmental and epileptic encephalopathy.
Aronica E, Specchio N, Luinenburg MJ, Curatolo P
Brain 2023 Jul 3;146(7):2694-2710. doi: 10.1093/brain/awad048. PMID: 36806388Free PMC Article
Side effects of amino acid supplements.
Holeček M
Physiol Res 2022 Mar 25;71(1):29-45. Epub 2022 Jan 19 doi: 10.33549/physiolres.934790. PMID: 35043647Free PMC Article
Frozen, but no accident - why the 20 standard amino acids were selected.
Doig AJ
FEBS J 2017 May;284(9):1296-1305. Epub 2017 Jan 13 doi: 10.1111/febs.13982. PMID: 27926995
Molecular mechanisms of depression: perspectives on new treatment strategies.
Lang UE, Borgwardt S
Cell Physiol Biochem 2013;31(6):761-77. Epub 2013 May 31 doi: 10.1159/000350094. PMID: 23735822

Diagnosis

Developmental and epileptic encephalopathies.
Scheffer IE, Zuberi S, Mefford HC, Guerrini R, McTague A
Nat Rev Dis Primers 2024 Sep 5;10(1):61. doi: 10.1038/s41572-024-00546-6. PMID: 39237642
Neuroinflammatory pathways as treatment targets and biomarkers in epilepsy.
Vezzani A, Balosso S, Ravizza T
Nat Rev Neurol 2019 Aug;15(8):459-472. Epub 2019 Jul 1 doi: 10.1038/s41582-019-0217-x. PMID: 31263255
The glucose transporter type 1 (Glut1) syndromes.
Koch H, Weber YG
Epilepsy Behav 2019 Feb;91:90-93. Epub 2018 Jul 31 doi: 10.1016/j.yebeh.2018.06.010. PMID: 30076047
Metabolic features of the cell danger response.
Naviaux RK
Mitochondrion 2014 May;16:7-17. Epub 2013 Aug 24 doi: 10.1016/j.mito.2013.08.006. PMID: 23981537
Molecular mechanisms of depression: perspectives on new treatment strategies.
Lang UE, Borgwardt S
Cell Physiol Biochem 2013;31(6):761-77. Epub 2013 May 31 doi: 10.1159/000350094. PMID: 23735822

Therapy

Mechanisms of action of currently used antiseizure drugs.
Sills GJ, Rogawski MA
Neuropharmacology 2020 May 15;168:107966. Epub 2020 Jan 14 doi: 10.1016/j.neuropharm.2020.107966. PMID: 32120063
The Effects of Green Tea Amino Acid L-Theanine Consumption on the Ability to Manage Stress and Anxiety Levels: a Systematic Review.
Williams JL, Everett JM, D'Cunha NM, Sergi D, Georgousopoulou EN, Keegan RJ, McKune AJ, Mellor DD, Anstice N, Naumovski N
Plant Foods Hum Nutr 2020 Mar;75(1):12-23. doi: 10.1007/s11130-019-00771-5. PMID: 31758301
Febrile Infection-Related Epilepsy Syndrome (FIRES): An Overview of Treatment and Recent Patents.
Hon KL, Leung AKC, Torres AR
Recent Pat Inflamm Allergy Drug Discov 2018;12(2):128-135. doi: 10.2174/1872213X12666180508122450. PMID: 29745347
Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders.
Wolff M, Johannesen KM, Hedrich UBS, Masnada S, Rubboli G, Gardella E, Lesca G, Ville D, Milh M, Villard L, Afenjar A, Chantot-Bastaraud S, Mignot C, Lardennois C, Nava C, Schwarz N, Gérard M, Perrin L, Doummar D, Auvin S, Miranda MJ, Hempel M, Brilstra E, Knoers N, Verbeek N, van Kempen M, Braun KP, Mancini G, Biskup S, Hörtnagel K, Döcker M, Bast T, Loddenkemper T, Wong-Kisiel L, Baumeister FM, Fazeli W, Striano P, Dilena R, Fontana E, Zara F, Kurlemann G, Klepper J, Thoene JG, Arndt DH, Deconinck N, Schmitt-Mechelke T, Maier O, Muhle H, Wical B, Finetti C, Brückner R, Pietz J, Golla G, Jillella D, Linnet KM, Charles P, Moog U, Õiglane-Shlik E, Mantovani JF, Park K, Deprez M, Lederer D, Mary S, Scalais E, Selim L, Van Coster R, Lagae L, Nikanorova M, Hjalgrim H, Korenke GC, Trivisano M, Specchio N, Ceulemans B, Dorn T, Helbig KL, Hardies K, Stamberger H, de Jonghe P, Weckhuysen S, Lemke JR, Krägeloh-Mann I, Helbig I, Kluger G, Lerche H, Møller RS
Brain 2017 May 1;140(5):1316-1336. doi: 10.1093/brain/awx054. PMID: 28379373
Autoimmune Epilepsy.
Toledano M, Pittock SJ
Semin Neurol 2015 Jun;35(3):245-58. Epub 2015 Jun 10 doi: 10.1055/s-0035-1552625. PMID: 26060904

Prognosis

Epileptogenesis in tuberous sclerosis complex-related developmental and epileptic encephalopathy.
Aronica E, Specchio N, Luinenburg MJ, Curatolo P
Brain 2023 Jul 3;146(7):2694-2710. doi: 10.1093/brain/awad048. PMID: 36806388Free PMC Article
Essential Amino Acids and Protein Synthesis: Insights into Maximizing the Muscle and Whole-Body Response to Feeding.
Church DD, Hirsch KR, Park S, Kim IY, Gwin JA, Pasiakos SM, Wolfe RR, Ferrando AA
Nutrients 2020 Dec 2;12(12) doi: 10.3390/nu12123717. PMID: 33276485Free PMC Article
Neuroinflammatory pathways as treatment targets and biomarkers in epilepsy.
Vezzani A, Balosso S, Ravizza T
Nat Rev Neurol 2019 Aug;15(8):459-472. Epub 2019 Jul 1 doi: 10.1038/s41582-019-0217-x. PMID: 31263255
Febrile Infection-Related Epilepsy Syndrome (FIRES): An Overview of Treatment and Recent Patents.
Hon KL, Leung AKC, Torres AR
Recent Pat Inflamm Allergy Drug Discov 2018;12(2):128-135. doi: 10.2174/1872213X12666180508122450. PMID: 29745347
Lafora disease.
Turnbull J, Tiberia E, Striano P, Genton P, Carpenter S, Ackerley CA, Minassian BA
Epileptic Disord 2016 Sep 1;18(S2):38-62. doi: 10.1684/epd.2016.0842. PMID: 27702709Free PMC Article

Clinical prediction guides

Developmental and epileptic encephalopathies.
Scheffer IE, Zuberi S, Mefford HC, Guerrini R, McTague A
Nat Rev Dis Primers 2024 Sep 5;10(1):61. doi: 10.1038/s41572-024-00546-6. PMID: 39237642
Essential Amino Acids and Protein Synthesis: Insights into Maximizing the Muscle and Whole-Body Response to Feeding.
Church DD, Hirsch KR, Park S, Kim IY, Gwin JA, Pasiakos SM, Wolfe RR, Ferrando AA
Nutrients 2020 Dec 2;12(12) doi: 10.3390/nu12123717. PMID: 33276485Free PMC Article
Neuroinflammatory pathways as treatment targets and biomarkers in epilepsy.
Vezzani A, Balosso S, Ravizza T
Nat Rev Neurol 2019 Aug;15(8):459-472. Epub 2019 Jul 1 doi: 10.1038/s41582-019-0217-x. PMID: 31263255
Molecular mechanisms of depression: perspectives on new treatment strategies.
Lang UE, Borgwardt S
Cell Physiol Biochem 2013;31(6):761-77. Epub 2013 May 31 doi: 10.1159/000350094. PMID: 23735822
Metabolite profiles and the risk of developing diabetes.
Wang TJ, Larson MG, Vasan RS, Cheng S, Rhee EP, McCabe E, Lewis GD, Fox CS, Jacques PF, Fernandez C, O'Donnell CJ, Carr SA, Mootha VK, Florez JC, Souza A, Melander O, Clish CB, Gerszten RE
Nat Med 2011 Apr;17(4):448-53. Epub 2011 Mar 20 doi: 10.1038/nm.2307. PMID: 21423183Free PMC Article

Recent systematic reviews

Oral Branched-Chain Amino Acids Supplementation in Athletes: A Systematic Review.
Martinho DV, Nobari H, Faria A, Field A, Duarte D, Sarmento H
Nutrients 2022 Sep 27;14(19) doi: 10.3390/nu14194002. PMID: 36235655Free PMC Article
Metabolomics and Type 2 Diabetes Risk: An Updated Systematic Review and Meta-analysis of Prospective Cohort Studies.
Morze J, Wittenbecher C, Schwingshackl L, Danielewicz A, Rynkiewicz A, Hu FB, Guasch-Ferré M
Diabetes Care 2022 Apr 1;45(4):1013-1024. doi: 10.2337/dc21-1705. PMID: 35349649Free PMC Article
Nutritional interventions to improve muscle mass, muscle strength, and physical performance in older people: an umbrella review of systematic reviews and meta-analyses.
Gielen E, Beckwée D, Delaere A, De Breucker S, Vandewoude M, Bautmans I; Sarcopenia Guidelines Development Group of the Belgian Society of Gerontology and Geriatrics (BSGG)
Nutr Rev 2021 Jan 9;79(2):121-147. doi: 10.1093/nutrit/nuaa011. PMID: 32483625
The Gut Microbiome, Aging, and Longevity: A Systematic Review.
Badal VD, Vaccariello ED, Murray ER, Yu KE, Knight R, Jeste DV, Nguyen TT
Nutrients 2020 Dec 7;12(12) doi: 10.3390/nu12123759. PMID: 33297486Free PMC Article
β-alanine supplementation to improve exercise capacity and performance: a systematic review and meta-analysis.
Saunders B, Elliott-Sale K, Artioli GG, Swinton PA, Dolan E, Roschel H, Sale C, Gualano B
Br J Sports Med 2017 Apr;51(8):658-669. Epub 2016 Oct 18 doi: 10.1136/bjsports-2016-096396. PMID: 27797728

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