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Acquired Metabolic Diseases, Nervous System

MedGen UID:
210088
•Concept ID:
C1135773
•
Disease or Syndrome
Synonyms: Metabolic Diseases, Acquired, Nervous System; Nervous System Acquired Metabolic Diseases

Professional guidelines

PubMed

Galactosemia: Biochemistry, Molecular Genetics, Newborn Screening, and Treatment.
Succoio M, Sacchettini R, Rossi A, Parenti G, Ruoppolo M
Biomolecules 2022 Jul 11;12(7) doi: 10.3390/biom12070968. PMID: 35883524Free PMC Article
EASL Clinical Practice Guidelines on the management of hepatic encephalopathy.
European Association for the Study of the Liver. Electronic address: easloffice@easloffice.eu; European Association for the Study of the Liver
J Hepatol 2022 Sep;77(3):807-824. Epub 2022 Jun 17 doi: 10.1016/j.jhep.2022.06.001. PMID: 35724930
Neonatal Seizures: Diagnosis, Etiologies, and Management.
Ziobro J, Shellhaas RA
Semin Neurol 2020 Apr;40(2):246-256. Epub 2020 Mar 6 doi: 10.1055/s-0040-1702943. PMID: 32143234

Recent clinical studies

Etiology

Recommendations for diagnosing and managing individuals with glutaric aciduria type 1: Third revision.
Boy N, Mühlhausen C, Maier EM, Ballhausen D, Baumgartner MR, Beblo S, Burgard P, Chapman KA, Dobbelaere D, Heringer-Seifert J, Fleissner S, Grohmann-Held K, Hahn G, Harting I, Hoffmann GF, Jochum F, Karall D, Konstantopoulous V, Krawinkel MB, Lindner M, Märtner EMC, Nuoffer JM, Okun JG, Plecko B, Posset R, Sahm K, Scholl-Bürgi S, Thimm E, Walter M, Williams M, Vom Dahl S, Ziagaki A, Zschocke J, Kölker S
J Inherit Metab Dis 2023 May;46(3):482-519. Epub 2022 Nov 17 doi: 10.1002/jimd.12566. PMID: 36221165
Electrolyte Disorders and the Nervous System.
Jacoby N
Continuum (Minneap Minn) 2020 Jun;26(3):632-658. doi: 10.1212/CON.0000000000000872. PMID: 32487900
Stress-Induced Metabolic Disorder in Peripheral CD4(+) T Cells Leads to Anxiety-like Behavior.
Fan KQ, Li YY, Wang HL, Mao XT, Guo JX, Wang F, Huang LJ, Li YN, Ma XY, Gao ZJ, Chen W, Qian DD, Xue WJ, Cao Q, Zhang L, Shen L, Zhang L, Tong C, Zhong JY, Lu W, Lu L, Ren KM, Zhong G, Wang Y, Tang M, Feng XH, Chai RJ, Jin J
Cell 2019 Oct 31;179(4):864-879.e19. doi: 10.1016/j.cell.2019.10.001. PMID: 31675497
Genetic mimics of cerebral palsy.
Pearson TS, Pons R, Ghaoui R, Sue CM
Mov Disord 2019 May;34(5):625-636. Epub 2019 Mar 26 doi: 10.1002/mds.27655. PMID: 30913345
Central pontine and extrapontine myelinolysis: a systematic review.
Singh TD, Fugate JE, Rabinstein AA
Eur J Neurol 2014 Dec;21(12):1443-50. Epub 2014 Sep 15 doi: 10.1111/ene.12571. PMID: 25220878

Diagnosis

Recommendations for diagnosing and managing individuals with glutaric aciduria type 1: Third revision.
Boy N, Mühlhausen C, Maier EM, Ballhausen D, Baumgartner MR, Beblo S, Burgard P, Chapman KA, Dobbelaere D, Heringer-Seifert J, Fleissner S, Grohmann-Held K, Hahn G, Harting I, Hoffmann GF, Jochum F, Karall D, Konstantopoulous V, Krawinkel MB, Lindner M, Märtner EMC, Nuoffer JM, Okun JG, Plecko B, Posset R, Sahm K, Scholl-Bürgi S, Thimm E, Walter M, Williams M, Vom Dahl S, Ziagaki A, Zschocke J, Kölker S
J Inherit Metab Dis 2023 May;46(3):482-519. Epub 2022 Nov 17 doi: 10.1002/jimd.12566. PMID: 36221165
Toxic-metabolic encephalopathy in adults: Critical discussion and pragmatical diagnostic approach.
Le Guennec L, Marois C, Demeret S, Wijdicks EFM, Weiss N
Rev Neurol (Paris) 2022 Jan-Feb;178(1-2):93-104. Epub 2022 Jan 4 doi: 10.1016/j.neurol.2021.11.007. PMID: 34996631
Medical complications of anorexia nervosa.
Cost J, Krantz MJ, Mehler PS
Cleve Clin J Med 2020 Jun;87(6):361-366. doi: 10.3949/ccjm.87a.19084. PMID: 32487556
Inherited leukoencephalopathies.
Renaud DL
Semin Neurol 2012 Feb;32(1):3-8. Epub 2012 Mar 15 doi: 10.1055/s-0032-1306380. PMID: 22422201
Metabolic encephalopathies.
Angel MJ, Young GB
Neurol Clin 2011 Nov;29(4):837-82. doi: 10.1016/j.ncl.2011.08.002. PMID: 22032664

Therapy

Identifying encephalopathies from acute metabolic derangements.
Wijdicks EFM
J Intern Med 2022 Dec;292(6):846-857. Epub 2022 Jul 9 doi: 10.1111/joim.13538. PMID: 35809045
Hypoglycemic encephalopathy.
Hasebe M, Shibue K, Honjo S, Hamasaki A
QJM 2022 Jul 9;115(7):478-479. doi: 10.1093/qjmed/hcac125. PMID: 35583317
A Review of Fabry Disease.
Chan B, Adam DN
Skin Therapy Lett 2018 Mar;23(2):4-6. PMID: 29562089
Treatment, Therapy and Management of Metabolic Epilepsy: A Systematic Review.
Lin Lin Lee V, Kar Meng Choo B, Chung YS, P Kundap U, Kumari Y, Shaikh MF
Int J Mol Sci 2018 Mar 15;19(3) doi: 10.3390/ijms19030871. PMID: 29543761Free PMC Article
Dialysis disequilibrium syndrome.
Zepeda-Orozco D, Quigley R
Pediatr Nephrol 2012 Dec;27(12):2205-11. Epub 2012 Jun 19 doi: 10.1007/s00467-012-2199-4. PMID: 22710692Free PMC Article

Prognosis

Toxic-metabolic encephalopathy in adults: Critical discussion and pragmatical diagnostic approach.
Le Guennec L, Marois C, Demeret S, Wijdicks EFM, Weiss N
Rev Neurol (Paris) 2022 Jan-Feb;178(1-2):93-104. Epub 2022 Jan 4 doi: 10.1016/j.neurol.2021.11.007. PMID: 34996631
Diagnosis and Management of Hepatic Encephalopathy.
Rudler M, Weiss N, Bouzbib C, Thabut D
Clin Liver Dis 2021 May;25(2):393-417. Epub 2021 Mar 11 doi: 10.1016/j.cld.2021.01.008. PMID: 33838857
Medical complications of anorexia nervosa.
Cost J, Krantz MJ, Mehler PS
Cleve Clin J Med 2020 Jun;87(6):361-366. doi: 10.3949/ccjm.87a.19084. PMID: 32487556
Epidemiology of Hepatic Encephalopathy.
Elsaid MI, Rustgi VK
Clin Liver Dis 2020 May;24(2):157-174. Epub 2020 Mar 2 doi: 10.1016/j.cld.2020.01.001. PMID: 32245524
Genetic mimics of cerebral palsy.
Pearson TS, Pons R, Ghaoui R, Sue CM
Mov Disord 2019 May;34(5):625-636. Epub 2019 Mar 26 doi: 10.1002/mds.27655. PMID: 30913345

Clinical prediction guides

Identifying encephalopathies from acute metabolic derangements.
Wijdicks EFM
J Intern Med 2022 Dec;292(6):846-857. Epub 2022 Jul 9 doi: 10.1111/joim.13538. PMID: 35809045
Acute Acquired Metabolic Encephalopathy Based on Diffusion MRI.
Jeon SJ, Choi SS, Kim HY, Yu IK
Korean J Radiol 2021 Dec;22(12):2034-2051. Epub 2021 Aug 31 doi: 10.3348/kjr.2019.0303. PMID: 34564957Free PMC Article
Biochemical and molecular predictors for prognosis in nonketotic hyperglycinemia.
Swanson MA, Coughlin CR Jr, Scharer GH, Szerlong HJ, Bjoraker KJ, Spector EB, Creadon-Swindell G, Mahieu V, Matthijs G, Hennermann JB, Applegarth DA, Toone JR, Tong S, Williams K, Van Hove JL
Ann Neurol 2015 Oct;78(4):606-18. Epub 2015 Aug 10 doi: 10.1002/ana.24485. PMID: 26179960Free PMC Article
Symptomatic myoclonus.
Borg M
Neurophysiol Clin 2006 Sep-Dec;36(5-6):309-18. Epub 2007 Jan 17 doi: 10.1016/j.neucli.2006.12.006. PMID: 17336775
Serine-deficiency syndromes.
de Koning TJ, Klomp LW
Curr Opin Neurol 2004 Apr;17(2):197-204. doi: 10.1097/00019052-200404000-00019. PMID: 15021249

Recent systematic reviews

Treatment of seizures in the neonate: Guidelines and consensus-based recommendations-Special report from the ILAE Task Force on Neonatal Seizures.
Pressler RM, Abend NS, Auvin S, Boylan G, Brigo F, Cilio MR, De Vries LS, Elia M, Espeche A, Hahn CD, Inder T, Jette N, Kakooza-Mwesige A, Mader S, Mizrahi EM, Moshé SL, Nagarajan L, Noyman I, Nunes ML, Samia P, Shany E, Shellhaas RA, Subota A, Triki CC, Tsuchida T, Vinayan KP, Wilmshurst JM, Yozawitz EG, Hartmann H
Epilepsia 2023 Oct;64(10):2550-2570. Epub 2023 Sep 1 doi: 10.1111/epi.17745. PMID: 37655702
Rationale for a Multi-Factorial Approach for the Reversal of Cognitive Decline in Alzheimer's Disease and MCI: A Review.
Rao RV, Subramaniam KG, Gregory J, Bredesen AL, Coward C, Okada S, Kelly L, Bredesen DE
Int J Mol Sci 2023 Jan 14;24(2) doi: 10.3390/ijms24021659. PMID: 36675177Free PMC Article
Mediterranean Diet and Telomere Length: A Systematic Review and Meta-Analysis.
Canudas S, Becerra-Tomás N, Hernández-Alonso P, Galié S, Leung C, Crous-Bou M, De Vivo I, Gao Y, Gu Y, Meinilä J, Milte C, García-Calzón S, Marti A, Boccardi V, Ventura-Marra M, Salas-Salvadó J
Adv Nutr 2020 Nov 16;11(6):1544-1554. doi: 10.1093/advances/nmaa079. PMID: 32730558Free PMC Article
Central pontine and extrapontine myelinolysis: a systematic review.
Singh TD, Fugate JE, Rabinstein AA
Eur J Neurol 2014 Dec;21(12):1443-50. Epub 2014 Sep 15 doi: 10.1111/ene.12571. PMID: 25220878
Recommendation for a definition of acute symptomatic seizure.
Beghi E, Carpio A, Forsgren L, Hesdorffer DC, Malmgren K, Sander JW, Tomson T, Hauser WA
Epilepsia 2010 Apr;51(4):671-5. Epub 2009 Sep 3 doi: 10.1111/j.1528-1167.2009.02285.x. PMID: 19732133

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