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Carbohydrate Metabolism, Inborn Errors

MedGen UID:
2825
Concept ID:
C0007001
Disease or Syndrome
Synonym: Carbohydrate Metabolism, Inborn Error

Definition

Dysfunctions of CARBOHYDRATE METABOLISM resulting from inborn genetic mutations that are inherited or acquired in utero. [from MeSH]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCarbohydrate Metabolism, Inborn Errors

Professional guidelines

Recent clinical studies

Etiology

Striano P, Auvin S, Collins A, Horvath R, Scheffer IE, Tzadok M, Miller I, Kay Koenig M, Lacy A, Davis R, Garcia-Cazorla A, Saneto RP, Brandabur M, Blair S, Koutsoukos T, De Vivo D
Epilepsia 2022 Jul;63(7):1748-1760. Epub 2022 May 21 doi: 10.1111/epi.17263. PMID: 35441706Free PMC Article
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
Mullen SA, Berkovic SF; ILAE Genetics Commission
Epilepsia 2018 Jun;59(6):1148-1153. Epub 2018 May 9 doi: 10.1111/epi.14042. PMID: 29741207
Berni Canani R, Pezzella V, Amoroso A, Cozzolino T, Di Scala C, Passariello A
Nutrients 2016 Mar 10;8(3):157. doi: 10.3390/nu8030157. PMID: 26978392Free PMC Article
Bayless TM, Christopher NL
Am J Clin Nutr 1969 Feb;22(2):181-90. doi: 10.1093/ajcn/22.2.181. PMID: 4885929

Diagnosis

Smith H, Romero B, Flood E, Boney A
Qual Life Res 2021 Aug;30(8):2329-2338. Epub 2021 Mar 27 doi: 10.1007/s11136-021-02819-z. PMID: 33772704Free PMC Article
Wanes D, Husein DM, Naim HY
Nutrients 2019 Feb 22;11(2) doi: 10.3390/nu11020461. PMID: 30813293Free PMC Article
Mullen SA, Berkovic SF; ILAE Genetics Commission
Epilepsia 2018 Jun;59(6):1148-1153. Epub 2018 May 9 doi: 10.1111/epi.14042. PMID: 29741207
Weinstein DA, Steuerwald U, De Souza CFM, Derks TGJ
Pediatr Clin North Am 2018 Apr;65(2):247-265. doi: 10.1016/j.pcl.2017.11.005. PMID: 29502912
Berni Canani R, Pezzella V, Amoroso A, Cozzolino T, Di Scala C, Passariello A
Nutrients 2016 Mar 10;8(3):157. doi: 10.3390/nu8030157. PMID: 26978392Free PMC Article

Therapy

Haridas B, Kossoff EH
Neurol Clin 2022 Nov;40(4):785-797. Epub 2022 Sep 28 doi: 10.1016/j.ncl.2022.03.009. PMID: 36270691
Striano P, Auvin S, Collins A, Horvath R, Scheffer IE, Tzadok M, Miller I, Kay Koenig M, Lacy A, Davis R, Garcia-Cazorla A, Saneto RP, Brandabur M, Blair S, Koutsoukos T, De Vivo D
Epilepsia 2022 Jul;63(7):1748-1760. Epub 2022 May 21 doi: 10.1111/epi.17263. PMID: 35441706Free PMC Article
Berni Canani R, Pezzella V, Amoroso A, Cozzolino T, Di Scala C, Passariello A
Nutrients 2016 Mar 10;8(3):157. doi: 10.3390/nu8030157. PMID: 26978392Free PMC Article
Vandenplas Y
Asia Pac J Clin Nutr 2015;24 Suppl 1:S9-13. doi: 10.6133/apjcn.2015.24.s1.02. PMID: 26715083
Am J Health Syst Pharm 2001 Dec 15;58(24):2374-5. doi: 10.1093/ajhp/58.24.2374. PMID: 11794951

Prognosis

Wang W, Wang L, Ma M
J Paediatr Child Health 2020 Nov;56(11):1779-1784. Epub 2020 Sep 18 doi: 10.1111/jpc.14702. PMID: 32946683
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
Berni Canani R, Pezzella V, Amoroso A, Cozzolino T, Di Scala C, Passariello A
Nutrients 2016 Mar 10;8(3):157. doi: 10.3390/nu8030157. PMID: 26978392Free PMC Article
Deng D, Xu C, Sun P, Wu J, Yan C, Hu M, Yan N
Nature 2014 Jun 5;510(7503):121-5. Epub 2014 May 18 doi: 10.1038/nature13306. PMID: 24847886
van den Berghe G
J Inherit Metab Dis 1996;19(4):470-7. doi: 10.1007/BF01799108. PMID: 8884571

Clinical prediction guides

Striano P, Auvin S, Collins A, Horvath R, Scheffer IE, Tzadok M, Miller I, Kay Koenig M, Lacy A, Davis R, Garcia-Cazorla A, Saneto RP, Brandabur M, Blair S, Koutsoukos T, De Vivo D
Epilepsia 2022 Jul;63(7):1748-1760. Epub 2022 May 21 doi: 10.1111/epi.17263. PMID: 35441706Free PMC Article
Smith H, Romero B, Flood E, Boney A
Qual Life Res 2021 Aug;30(8):2329-2338. Epub 2021 Mar 27 doi: 10.1007/s11136-021-02819-z. PMID: 33772704Free PMC Article
Vandekeere S, Dubois C, Kalucka J, Sullivan MR, García-Caballero M, Goveia J, Chen R, Diehl FF, Bar-Lev L, Souffreau J, Pircher A, Kumar S, Vinckier S, Hirabayashi Y, Furuya S, Schoonjans L, Eelen G, Ghesquière B, Keshet E, Li X, Vander Heiden MG, Dewerchin M, Carmeliet P
Cell Metab 2018 Oct 2;28(4):573-587.e13. Epub 2018 Jul 12 doi: 10.1016/j.cmet.2018.06.009. PMID: 30017355
Berni Canani R, Pezzella V, Amoroso A, Cozzolino T, Di Scala C, Passariello A
Nutrients 2016 Mar 10;8(3):157. doi: 10.3390/nu8030157. PMID: 26978392Free PMC Article
De Giorgis V, Veggiotti P
Seizure 2013 Dec;22(10):803-11. Epub 2013 Jul 26 doi: 10.1016/j.seizure.2013.07.003. PMID: 23890838

Recent systematic reviews

Leen WG, Taher M, Verbeek MM, Kamsteeg EJ, van de Warrenburg BP, Willemsen MA
J Neurol 2014 Mar;261(3):589-99. Epub 2014 Jan 12 doi: 10.1007/s00415-014-7240-z. PMID: 24413642
Leen WG, Wevers RA, Kamsteeg EJ, Scheffer H, Verbeek MM, Willemsen MA
JAMA Neurol 2013 Nov;70(11):1440-4. doi: 10.1001/jamaneurol.2013.3090. PMID: 23999624

Supplemental Content

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