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Disorder of isoleucine metabolism

MedGen UID:
376443
Concept ID:
C1848793
Disease or Syndrome
Synonym: Tiglic acidemia
SNOMED CT: Disorder of isoleucine metabolism (444755001)
 
Monarch Initiative: MONDO:0010141
OMIM®: 275190

Professional guidelines

PubMed

Alfardan J, Mohsen AW, Copeland S, Ellison J, Keppen-Davis L, Rohrbach M, Powell BR, Gillis J, Matern D, Kant J, Vockley J
Mol Genet Metab 2010 Aug;100(4):333-8. Epub 2010 May 23 doi: 10.1016/j.ymgme.2010.04.014. PMID: 20547083Free PMC Article

Recent clinical studies

Etiology

Mihaylova MM, Chaix A, Delibegovic M, Ramsey JJ, Bass J, Melkani G, Singh R, Chen Z, Ja WW, Shirasu-Hiza M, Latimer MN, Mattison JA, Thalacker-Mercer AE, Dixit VD, Panda S, Lamming DW
Cell Metab 2023 Jul 11;35(7):1114-1131. Epub 2023 Jun 30 doi: 10.1016/j.cmet.2023.06.008. PMID: 37392742Free PMC Article
Kong L, Ye C, Wang Y, Zheng J, Zhao Z, Li M, Xu Y, Lu J, Chen Y, Xu M, Wang W, Ning G, Bi Y, Wang T
Liver Int 2023 Apr;43(4):829-839. Epub 2023 Feb 14 doi: 10.1111/liv.15532. PMID: 36719063
Zhang F, Wan Y, Zuo T, Yeoh YK, Liu Q, Zhang L, Zhan H, Lu W, Xu W, Lui GCY, Li AYL, Cheung CP, Wong CK, Chan PKS, Chan FKL, Ng SC
Gastroenterology 2022 Feb;162(2):548-561.e4. Epub 2021 Oct 21 doi: 10.1053/j.gastro.2021.10.013. PMID: 34687739Free PMC Article
Xu Y, Jiang H, Li L, Chen F, Liu Y, Zhou M, Wang J, Jiang J, Li X, Fan X, Zhang L, Zhang J, Qiu J, Wu Y, Fang C, Sun H, Liu J
Circulation 2020 Jul 7;142(1):49-64. Epub 2020 Mar 23 doi: 10.1161/CIRCULATIONAHA.119.043581. PMID: 32200651
Bloomgarden Z
J Diabetes 2018 May;10(5):350-352. Epub 2018 Feb 13 doi: 10.1111/1753-0407.12645. PMID: 29369529

Diagnosis

Tangeraas T, Constante JR, Backe PH, Oyarzábal A, Neugebauer J, Weinhold N, Boemer F, Debray FG, Ozturk-Hism B, Evren G, Tuba EF, Ummuhan O, Footitt E, Davison J, Martinez C, Bueno C, Machado I, Rodríguez-Pombo P, Al-Sannaa N, De Los Santos M, López JM, Ozturkmen-Akay H, Karaca M, Tekin M, Pajares S, Ormazabal A, Stoway SD, Artuch R, Dixon M, Mørkrid L, García-Cazorla A
Brain 2023 Jul 3;146(7):3003-3013. doi: 10.1093/brain/awad010. PMID: 36729635
Xiao G, He Q, Liu L, Zhang T, Zhou M, Li X, Chen Y, Chen Y, Qin C
J Transl Med 2022 Oct 20;20(1):475. doi: 10.1186/s12967-022-03691-2. PMID: 36266699Free PMC Article
Peng H, Wang Y, Luo W
Oncogene 2020 Oct;39(44):6747-6756. Epub 2020 Sep 25 doi: 10.1038/s41388-020-01480-z. PMID: 32978521Free PMC Article
Xu Y, Jiang H, Li L, Chen F, Liu Y, Zhou M, Wang J, Jiang J, Li X, Fan X, Zhang L, Zhang J, Qiu J, Wu Y, Fang C, Sun H, Liu J
Circulation 2020 Jul 7;142(1):49-64. Epub 2020 Mar 23 doi: 10.1161/CIRCULATIONAHA.119.043581. PMID: 32200651
Bloomgarden Z
J Diabetes 2018 May;10(5):350-352. Epub 2018 Feb 13 doi: 10.1111/1753-0407.12645. PMID: 29369529

Therapy

Kong L, Ye C, Wang Y, Zheng J, Zhao Z, Li M, Xu Y, Lu J, Chen Y, Xu M, Wang W, Ning G, Bi Y, Wang T
Liver Int 2023 Apr;43(4):829-839. Epub 2023 Feb 14 doi: 10.1111/liv.15532. PMID: 36719063
Xiao G, He Q, Liu L, Zhang T, Zhou M, Li X, Chen Y, Chen Y, Qin C
J Transl Med 2022 Oct 20;20(1):475. doi: 10.1186/s12967-022-03691-2. PMID: 36266699Free PMC Article
Holeček M
Nutrients 2020 Mar 22;12(3) doi: 10.3390/nu12030848. PMID: 32235743Free PMC Article
Wang X, Sun G, Feng T, Zhang J, Huang X, Wang T, Xie Z, Chu X, Yang J, Wang H, Chang S, Gong Y, Ruan L, Zhang G, Yan S, Lian W, Du C, Yang D, Zhang Q, Lin F, Liu J, Zhang H, Ge C, Xiao S, Ding J, Geng M
Cell Res 2019 Oct;29(10):787-803. Epub 2019 Sep 6 doi: 10.1038/s41422-019-0216-x. PMID: 31488882Free PMC Article
Bloomgarden Z
J Diabetes 2018 May;10(5):350-352. Epub 2018 Feb 13 doi: 10.1111/1753-0407.12645. PMID: 29369529

Prognosis

Deon M, Guerreiro G, Girardi J, Ribas G, Vargas CR
Int J Dev Neurosci 2023 Oct;83(6):489-504. Epub 2023 Jun 20 doi: 10.1002/jdn.10283. PMID: 37340513
Jiang H, Zhou C, Wei H, Wu Y, Zhou Y, Xiao X, Liu L, Li M, Duan J, Meng R, Ji X
J Cereb Blood Flow Metab 2023 Sep;43(9):1532-1543. Epub 2023 Apr 17 doi: 10.1177/0271678X231170037. PMID: 37066688Free PMC Article
Peng H, Wang Y, Luo W
Oncogene 2020 Oct;39(44):6747-6756. Epub 2020 Sep 25 doi: 10.1038/s41388-020-01480-z. PMID: 32978521Free PMC Article
Gaggini M, Carli F, Rosso C, Buzzigoli E, Marietti M, Della Latta V, Ciociaro D, Abate ML, Gambino R, Cassader M, Bugianesi E, Gastaldelli A
Hepatology 2018 Jan;67(1):145-158. Epub 2017 Nov 17 doi: 10.1002/hep.29465. PMID: 28802074
Maurer MS, Hanna M, Grogan M, Dispenzieri A, Witteles R, Drachman B, Judge DP, Lenihan DJ, Gottlieb SS, Shah SJ, Steidley DE, Ventura H, Murali S, Silver MA, Jacoby D, Fedson S, Hummel SL, Kristen AV, Damy T, Planté-Bordeneuve V, Coelho T, Mundayat R, Suhr OB, Waddington Cruz M, Rapezzi C; THAOS Investigators
J Am Coll Cardiol 2016 Jul 12;68(2):161-72. doi: 10.1016/j.jacc.2016.03.596. PMID: 27386769Free PMC Article

Clinical prediction guides

de Kluiver H, Jansen R, Penninx BWJH, Giltay EJ, Schoevers RA, Milaneschi Y
Transl Psychiatry 2023 Jun 10;13(1):198. doi: 10.1038/s41398-023-02484-5. PMID: 37301859Free PMC Article
Tangeraas T, Constante JR, Backe PH, Oyarzábal A, Neugebauer J, Weinhold N, Boemer F, Debray FG, Ozturk-Hism B, Evren G, Tuba EF, Ummuhan O, Footitt E, Davison J, Martinez C, Bueno C, Machado I, Rodríguez-Pombo P, Al-Sannaa N, De Los Santos M, López JM, Ozturkmen-Akay H, Karaca M, Tekin M, Pajares S, Ormazabal A, Stoway SD, Artuch R, Dixon M, Mørkrid L, García-Cazorla A
Brain 2023 Jul 3;146(7):3003-3013. doi: 10.1093/brain/awad010. PMID: 36729635
Wang X, Sun G, Feng T, Zhang J, Huang X, Wang T, Xie Z, Chu X, Yang J, Wang H, Chang S, Gong Y, Ruan L, Zhang G, Yan S, Lian W, Du C, Yang D, Zhang Q, Lin F, Liu J, Zhang H, Ge C, Xiao S, Ding J, Geng M
Cell Res 2019 Oct;29(10):787-803. Epub 2019 Sep 6 doi: 10.1038/s41422-019-0216-x. PMID: 31488882Free PMC Article
Bloomgarden Z
J Diabetes 2018 May;10(5):350-352. Epub 2018 Feb 13 doi: 10.1111/1753-0407.12645. PMID: 29369529
Gaggini M, Carli F, Rosso C, Buzzigoli E, Marietti M, Della Latta V, Ciociaro D, Abate ML, Gambino R, Cassader M, Bugianesi E, Gastaldelli A
Hepatology 2018 Jan;67(1):145-158. Epub 2017 Nov 17 doi: 10.1002/hep.29465. PMID: 28802074

Recent systematic reviews

Boeckmans J, Gatzios A, Schattenberg JM, Koek GH, Rodrigues RM, Vanhaecke T
Liver Int 2023 May;43(5):975-988. Epub 2023 Feb 16 doi: 10.1111/liv.15533. PMID: 36719059
Wang Y, Huang K, Liu F, Lu X, Huang J, Gu D
Atherosclerosis 2022 Jun;350:90-96. Epub 2022 Apr 25 doi: 10.1016/j.atherosclerosis.2022.04.026. PMID: 35576716
Arroyo-Cerezo A, Cerrillo I, Ortega Á, Fernández-Pachón MS
J Sports Med Phys Fitness 2021 Nov;61(11):1478-1489. Epub 2021 Feb 15 doi: 10.23736/S0022-4707.21.11843-2. PMID: 33586928
Ke C, Pan CW, Zhang Y, Zhu X, Zhang Y
Metabolomics 2019 Nov 21;15(12):152. doi: 10.1007/s11306-019-1615-1. PMID: 31754808
Zhao X, Han Q, Liu Y, Sun C, Gang X, Wang G
J Diabetes Res 2016;2016:2794591. Epub 2016 Aug 25 doi: 10.1155/2016/2794591. PMID: 27642608Free PMC Article

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