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Deficiency of glutamate decarboxylase

MedGen UID:
452941
Concept ID:
C1291560
Disease or Syndrome
Synonyms: Disorder of glutamate decarboxylase; Glutamate decarboxylase deficiency
SNOMED CT: Deficiency of glutamate decarboxylase (124596009)
 
Monarch Initiative: MONDO:0042970

Definition

A disease that has its basis in the disruption of glutamate decarboxylase activity. [from MONDO]

Professional guidelines

PubMed

Zhang J, Deng Y, Wan Y, Wang J, Xu J
Front Endocrinol (Lausanne) 2022;13:994836. Epub 2022 Nov 15 doi: 10.3389/fendo.2022.994836. PMID: 36457559Free PMC Article
Niskanen LK, Tuomi T, Karjalainen J, Groop LC, Uusitupa MI
Diabetes Care 1995 Dec;18(12):1557-65. doi: 10.2337/diacare.18.12.1557. PMID: 8722051
Woolf LI
Proc Nutr Soc 1976 May;35(1):31-6. PMID: 781683

Recent clinical studies

Etiology

Zhang J, Deng Y, Wan Y, Wang J, Xu J
Front Endocrinol (Lausanne) 2022;13:994836. Epub 2022 Nov 15 doi: 10.3389/fendo.2022.994836. PMID: 36457559Free PMC Article
Ahlqvist E, Prasad RB, Groop L
J Endocrinol 2021 Dec 20;252(3):R59-R70. doi: 10.1530/JOE-20-0596. PMID: 34783681
Ahlqvist E, Storm P, Käräjämäki A, Martinell M, Dorkhan M, Carlsson A, Vikman P, Prasad RB, Aly DM, Almgren P, Wessman Y, Shaat N, Spégel P, Mulder H, Lindholm E, Melander O, Hansson O, Malmqvist U, Lernmark Å, Lahti K, Forsén T, Tuomi T, Rosengren AH, Groop L
Lancet Diabetes Endocrinol 2018 May;6(5):361-369. Epub 2018 Mar 5 doi: 10.1016/S2213-8587(18)30051-2. PMID: 29503172
Pearl PL, Wallis DD, Gibson KM
Curr Neurol Neurosci Rep 2004 Mar;4(2):147-52. doi: 10.1007/s11910-004-0029-1. PMID: 14984687
Ebadi M, Gessert CF, Al-Sayegh A
Q Rev Drug Metab Drug Interact 1982;4(4):289-331. doi: 10.1515/dmdi.1982.4.4.289. PMID: 6087425

Diagnosis

Kawasaki E
Int J Mol Sci 2023 Jun 11;24(12) doi: 10.3390/ijms241210012. PMID: 37373160Free PMC Article
Ahlqvist E, Storm P, Käräjämäki A, Martinell M, Dorkhan M, Carlsson A, Vikman P, Prasad RB, Aly DM, Almgren P, Wessman Y, Shaat N, Spégel P, Mulder H, Lindholm E, Melander O, Hansson O, Malmqvist U, Lernmark Å, Lahti K, Forsén T, Tuomi T, Rosengren AH, Groop L
Lancet Diabetes Endocrinol 2018 May;6(5):361-369. Epub 2018 Mar 5 doi: 10.1016/S2213-8587(18)30051-2. PMID: 29503172
Merger SR, Leslie RD, Boehm BO
Diabet Med 2013 Feb;30(2):170-8. doi: 10.1111/dme.12048. PMID: 23075321
Erez A, Nagamani SC, Lee B
Am J Med Genet C Semin Med Genet 2011 Feb 15;157C(1):45-53. Epub 2011 Feb 10 doi: 10.1002/ajmg.c.30289. PMID: 21312326Free PMC Article
Pearl PL, Wallis DD, Gibson KM
Curr Neurol Neurosci Rep 2004 Mar;4(2):147-52. doi: 10.1007/s11910-004-0029-1. PMID: 14984687

Therapy

Zhang J, Deng Y, Wan Y, Wang J, Xu J
Front Endocrinol (Lausanne) 2022;13:994836. Epub 2022 Nov 15 doi: 10.3389/fendo.2022.994836. PMID: 36457559Free PMC Article
Pigeyre M, Hess S, Gomez MF, Asplund O, Groop L, Paré G, Gerstein H
Diabetologia 2022 Jan;65(1):206-215. Epub 2021 Oct 21 doi: 10.1007/s00125-021-05567-4. PMID: 34676424
Ahlqvist E, Prasad RB, Groop L
J Endocrinol 2021 Dec 20;252(3):R59-R70. doi: 10.1530/JOE-20-0596. PMID: 34783681
Harms RZ, Ostlund KR, Cabrera MS, Edwards E, Fisher M, Sarvetnick N
Front Immunol 2020;11:1922. Epub 2020 Sep 15 doi: 10.3389/fimmu.2020.01922. PMID: 33042112Free PMC Article
Chuang DT, Chuang JL, Wynn RM
J Nutr 2006 Jan;136(1 Suppl):243S-9S. doi: 10.1093/jn/136.1.243S. PMID: 16365091

Prognosis

Kawasaki E, Awata T, Ikegami H, Imagawa A, Oikawa Y, Osawa H, Katsuki T, Kanatsuna N, Kawamura R, Kozawa J, Kodani N, Kobayashi T, Shimada A, Shimoda M, Takahashi K, Chujo D, Tsujimoto T, Tsuchiya K, Terakawa A, Terasaki J, Nagasawa K, Noso S, Fukui T, Horie I, Yasuda K, Yasuda H, Yanai H, Hanafusa T, Kajio H; Japanese Type 1 Diabetes Database Study (TIDE‐J)
J Diabetes Investig 2024 Jul;15(7):835-842. Epub 2024 Mar 7 doi: 10.1111/jdi.14178. PMID: 38451108Free PMC Article
Kawasaki E
Int J Mol Sci 2023 Jun 11;24(12) doi: 10.3390/ijms241210012. PMID: 37373160Free PMC Article
Zhang J, Deng Y, Wan Y, Wang J, Xu J
Front Endocrinol (Lausanne) 2022;13:994836. Epub 2022 Nov 15 doi: 10.3389/fendo.2022.994836. PMID: 36457559Free PMC Article
Merger SR, Leslie RD, Boehm BO
Diabet Med 2013 Feb;30(2):170-8. doi: 10.1111/dme.12048. PMID: 23075321
Pearl PL, Gibson KM
Curr Opin Neurol 2004 Apr;17(2):107-13. doi: 10.1097/00019052-200404000-00005. PMID: 15021235

Clinical prediction guides

Kawasaki E, Awata T, Ikegami H, Imagawa A, Oikawa Y, Osawa H, Katsuki T, Kanatsuna N, Kawamura R, Kozawa J, Kodani N, Kobayashi T, Shimada A, Shimoda M, Takahashi K, Chujo D, Tsujimoto T, Tsuchiya K, Terakawa A, Terasaki J, Nagasawa K, Noso S, Fukui T, Horie I, Yasuda K, Yasuda H, Yanai H, Hanafusa T, Kajio H; Japanese Type 1 Diabetes Database Study (TIDE‐J)
J Diabetes Investig 2024 Jul;15(7):835-842. Epub 2024 Mar 7 doi: 10.1111/jdi.14178. PMID: 38451108Free PMC Article
Kawasaki E
Int J Mol Sci 2023 Jun 11;24(12) doi: 10.3390/ijms241210012. PMID: 37373160Free PMC Article
Harms RZ, Ostlund KR, Cabrera MS, Edwards E, Fisher M, Sarvetnick N
Front Immunol 2020;11:1922. Epub 2020 Sep 15 doi: 10.3389/fimmu.2020.01922. PMID: 33042112Free PMC Article
Merger SR, Leslie RD, Boehm BO
Diabet Med 2013 Feb;30(2):170-8. doi: 10.1111/dme.12048. PMID: 23075321
Zhang L, Eisenbarth GS
J Diabetes 2011 Mar;3(1):48-57. doi: 10.1111/j.1753-0407.2010.00102.x. PMID: 21073664

Supplemental Content

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