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Carbohydrate Metabolism, Inborn Errors

MedGen UID:
2825
Concept ID:
C0007001
Disease or Syndrome
Synonyms: 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

Recent clinical studies

Etiology

Ivanova N, Peycheva V, Kamenarova K, Kancheva D, Tsekova I, Aleksandrova I, Hristova D, Litvinenko I, Todorova D, Sarailieva G, Dimova P, Tomov V, Bozhinova V, Mitev V, Kaneva R, Jordanova A
Seizure 2018 Jan;54:41-44. Epub 2017 Nov 28 doi: 10.1016/j.seizure.2017.11.014. PMID: 29223885
Hewson S, Brunga L, Ojeda MF, Imhof E, Patel J, Zak M, Donner EJ, Kobayashi J, Salomons GS, Mercimek-Andrews S
Can J Neurol Sci 2018 Jan;45(1):93-96. Epub 2017 Nov 16 doi: 10.1017/cjn.2017.246. PMID: 29144225
Gumus H, Bayram AK, Kardas F, Canpolat M, Çağlayan AO, Kumandas S, Kendirci M, Per H
Neuropediatrics 2015 Oct;46(5):313-20. Epub 2015 Aug 12 doi: 10.1055/s-0035-1558435. PMID: 26267703
Schoeler NE, Cross JH, Drury S, Lench N, McMahon JM, MacKay MT, Scheffer IE, Sander JW, Sisodiya SM
Dev Med Child Neurol 2015 Oct;57(10):969-76. Epub 2015 Apr 23 doi: 10.1111/dmcn.12781. PMID: 25914049
De Giorgis V, Teutonico F, Cereda C, Balottin U, Bianchi M, Giordano L, Olivotto S, Ragona F, Tagliabue A, Zorzi G, Nardocci N, Veggiotti P
Seizure 2015 Jan;24:28-32. Epub 2014 Nov 26 doi: 10.1016/j.seizure.2014.11.009. PMID: 25564316

Diagnosis

Hewson S, Brunga L, Ojeda MF, Imhof E, Patel J, Zak M, Donner EJ, Kobayashi J, Salomons GS, Mercimek-Andrews S
Can J Neurol Sci 2018 Jan;45(1):93-96. Epub 2017 Nov 16 doi: 10.1017/cjn.2017.246. PMID: 29144225
Shibata T, Kobayashi K, Yoshinaga H, Ono H, Shinpo M, Kagitani-Shimono K
Neuropediatrics 2017 Oct;48(5):390-393. Epub 2017 Jun 5 doi: 10.1055/s-0037-1603520. PMID: 28582795
Çolak R, Alkan Özdemir S, Yangın Ergon E, Kağnıcı M, Çalkavur Ş
Balkan Med J 2017 Dec 1;34(6):580-583. Epub 2017 Apr 13 doi: 10.4274/balkanmedj.2016.1376. PMID: 28443597Free PMC Article
Juozapaite S, Praninskiene R, Burnyte B, Ambrozaityte L, Skerliene B
Brain Dev 2017 Apr;39(4):352-355. Epub 2016 Dec 5 doi: 10.1016/j.braindev.2016.11.007. PMID: 27927575
Almuqbil M, Go C, Nagy LL, Pai N, Mamak E, Mercimek-Mahmutoglu S
Pediatr Neurol 2015 Sep;53(3):243-6. Epub 2015 Jun 26 doi: 10.1016/j.pediatrneurol.2015.06.018. PMID: 26216499

Therapy

Yoshida T, Shimizu K, Suzuki S, Matsuoka Y, Morimatsu H
A A Pract 2018 Jul 15;11(2):35-37. doi: 10.1213/XAA.0000000000000727. PMID: 29634559
Glinton KE, Benke PJ, Lines MA, Geraghty MT, Chakraborty P, Al-Dirbashi OY, Jiang Y, Kennedy AD, Grotewiel MS, Sutton VR, Elsea SH, El-Hattab AW
Mol Genet Metab 2018 Mar;123(3):309-316. Epub 2017 Dec 12 doi: 10.1016/j.ymgme.2017.12.009. PMID: 29269105
Tagliabue A, Ferraris C, Uggeri F, Trentani C, Bertoli S, de Giorgis V, Veggiotti P, Elli M
Clin Nutr ESPEN 2017 Feb;17:33-37. Epub 2016 Dec 18 doi: 10.1016/j.clnesp.2016.11.003. PMID: 28361745
Almuqbil M, Go C, Nagy LL, Pai N, Mamak E, Mercimek-Mahmutoglu S
Pediatr Neurol 2015 Sep;53(3):243-6. Epub 2015 Jun 26 doi: 10.1016/j.pediatrneurol.2015.06.018. PMID: 26216499
Tzadok M, Nissenkorn A, Porper K, Matot I, Marcu S, Anikster Y, Menascu S, Bercovich D, Ben Zeev B
J Child Neurol 2014 Mar;29(3):349-59. Epub 2013 Jan 22 doi: 10.1177/0883073812471718. PMID: 23340081

Prognosis

Mayorga L, Gamboni B, Mampel A, Roqué M
Mol Genet Metab 2018 Mar;123(3):331-336. Epub 2018 Jan 2 doi: 10.1016/j.ymgme.2017.12.436. PMID: 29307761
Ivanova N, Peycheva V, Kamenarova K, Kancheva D, Tsekova I, Aleksandrova I, Hristova D, Litvinenko I, Todorova D, Sarailieva G, Dimova P, Tomov V, Bozhinova V, Mitev V, Kaneva R, Jordanova A
Seizure 2018 Jan;54:41-44. Epub 2017 Nov 28 doi: 10.1016/j.seizure.2017.11.014. PMID: 29223885
Gumus H, Bayram AK, Kardas F, Canpolat M, Çağlayan AO, Kumandas S, Kendirci M, Per H
Neuropediatrics 2015 Oct;46(5):313-20. Epub 2015 Aug 12 doi: 10.1055/s-0035-1558435. PMID: 26267703
Schoeler NE, Cross JH, Drury S, Lench N, McMahon JM, MacKay MT, Scheffer IE, Sander JW, Sisodiya SM
Dev Med Child Neurol 2015 Oct;57(10):969-76. Epub 2015 Apr 23 doi: 10.1111/dmcn.12781. PMID: 25914049
Alter AS, Engelstad K, Hinton VJ, Montes J, Pearson TS, Akman CI, De Vivo DC
J Child Neurol 2015 Feb;30(2):160-9. Epub 2014 Apr 30 doi: 10.1177/0883073814531822. PMID: 24789115

Clinical prediction guides

Mayorga L, Gamboni B, Mampel A, Roqué M
Mol Genet Metab 2018 Mar;123(3):331-336. Epub 2018 Jan 2 doi: 10.1016/j.ymgme.2017.12.436. PMID: 29307761
Glinton KE, Benke PJ, Lines MA, Geraghty MT, Chakraborty P, Al-Dirbashi OY, Jiang Y, Kennedy AD, Grotewiel MS, Sutton VR, Elsea SH, El-Hattab AW
Mol Genet Metab 2018 Mar;123(3):309-316. Epub 2017 Dec 12 doi: 10.1016/j.ymgme.2017.12.009. PMID: 29269105
Gumus H, Bayram AK, Kardas F, Canpolat M, Çağlayan AO, Kumandas S, Kendirci M, Per H
Neuropediatrics 2015 Oct;46(5):313-20. Epub 2015 Aug 12 doi: 10.1055/s-0035-1558435. PMID: 26267703
Schoeler NE, Cross JH, Drury S, Lench N, McMahon JM, MacKay MT, Scheffer IE, Sander JW, Sisodiya SM
Dev Med Child Neurol 2015 Oct;57(10):969-76. Epub 2015 Apr 23 doi: 10.1111/dmcn.12781. PMID: 25914049
Alter AS, Engelstad K, Hinton VJ, Montes J, Pearson TS, Akman CI, De Vivo DC
J Child Neurol 2015 Feb;30(2):160-9. Epub 2014 Apr 30 doi: 10.1177/0883073814531822. PMID: 24789115

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

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