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Homocystinuria due to MTHFR deficiency

MedGen UID:
865499
Concept ID:
C4017062
Finding
Synonym: HOMOCYSTINURIA DUE TO MTHFR DEFICIENCY
 
OMIM®: 607093

Recent clinical studies

Etiology

Carrizzo A, Iside C, Nebbioso A, Carafa V, Damato A, Sciarretta S, Frati G, Di Nonno F, Valenti V, Ciccarelli M, Venturini E, Scioli M, Di Pietro P, Bucci T, Giudice V, Storto M, Serio B, Puca AA, Giugliano G, Trimarco V, Izzo R, Trimarco B, Selleri C, Altucci L, Vecchione C
Cell Mol Life Sci 2022 Jul 11;79(8):410. doi: 10.1007/s00018-022-04429-5. PMID: 35821533Free PMC Article
Yverneau M, Leroux S, Imbard A, Gleich F, Arion A, Moreau C, Nassogne MC, Szymanowski M, Tardieu M, Touati G, Bueno M, Chapman KA, Chien YH, Huemer M, Ješina P, Janssen MCH, Kölker S, Kožich V, Lavigne C, Lund AM, Mochel F, Morris A, Pons MR, Porras-Hurtado GL, Benoist JF, Damaj L, Schiff M; E-HOD Consortium.
J Inherit Metab Dis 2022 Jul;45(4):848-861. Epub 2022 May 9 doi: 10.1002/jimd.12504. PMID: 35460084
Marelli C, Lavigne C, Stepien KM, Janssen MCH, Feillet F, Kožich V, Jesina P, Schule R, Kessler C, Redonnet-Vernhet I, Regnier A, Burda P, Baumgartner M, Benoist JF, Huemer M, Mochel F; E-HOD Consortium.
J Inherit Metab Dis 2021 May;44(3):777-786. Epub 2020 Nov 2 doi: 10.1002/jimd.12323. PMID: 33089527
Hale N, Minzola D
AANA J 2020 Aug;88(4):303-306. PMID: 32718428
Gales A, Masingue M, Millecamps S, Giraudier S, Grosliere L, Adam C, Salim C, Navarro V, Nadjar Y
Orphanet J Rare Dis 2018 Feb 1;13(1):29. doi: 10.1186/s13023-018-0767-9. PMID: 29391032Free PMC Article

Diagnosis

Yverneau M, Leroux S, Imbard A, Gleich F, Arion A, Moreau C, Nassogne MC, Szymanowski M, Tardieu M, Touati G, Bueno M, Chapman KA, Chien YH, Huemer M, Ješina P, Janssen MCH, Kölker S, Kožich V, Lavigne C, Lund AM, Mochel F, Morris A, Pons MR, Porras-Hurtado GL, Benoist JF, Damaj L, Schiff M; E-HOD Consortium.
J Inherit Metab Dis 2022 Jul;45(4):848-861. Epub 2022 May 9 doi: 10.1002/jimd.12504. PMID: 35460084
Vemireddy K, Panigrahy N, Lingappa L, Chirla D
BMJ Case Rep 2022 Jan 4;15(1) doi: 10.1136/bcr-2021-246431. PMID: 34983810Free PMC Article
Padmanabha H, Shekhar R, Mahale R, Annam H, Bhat M, Sangeeth TA, Christopher R, Arunachal G, Mailankody P, Mathuranath PS
J Inherit Metab Dis 2021 Nov;44(6):1505-1506. Epub 2021 Sep 28 doi: 10.1002/jimd.12439. PMID: 34541688
Marelli C, Lavigne C, Stepien KM, Janssen MCH, Feillet F, Kožich V, Jesina P, Schule R, Kessler C, Redonnet-Vernhet I, Regnier A, Burda P, Baumgartner M, Benoist JF, Huemer M, Mochel F; E-HOD Consortium.
J Inherit Metab Dis 2021 May;44(3):777-786. Epub 2020 Nov 2 doi: 10.1002/jimd.12323. PMID: 33089527
Liu X, Li Y, Wang M, Wang X, Zhang L, Peng T, Liang W, Wang Z, Lu H
Aging (Albany NY) 2020 Dec 3;13(1):1176-1185. doi: 10.18632/aging.202256. PMID: 33290257Free PMC Article

Therapy

Liu X, Li Y, Wang M, Wang X, Zhang L, Peng T, Liang W, Wang Z, Lu H
Aging (Albany NY) 2020 Dec 3;13(1):1176-1185. doi: 10.18632/aging.202256. PMID: 33290257Free PMC Article
Hale N, Minzola D
AANA J 2020 Aug;88(4):303-306. PMID: 32718428
Nishimoto E, Ito Y, Sakakibara T, Nishikubo T
Pediatr Int 2019 Dec;61(12):1265-1266. Epub 2019 Nov 28 doi: 10.1111/ped.14018. PMID: 31782227
Couser NL, McClure J, Evans MW, Haines NR, Burden SK, Muenzer J
Ophthalmic Genet 2017 Jan-Feb;38(1):91-94. Epub 2016 Apr 4 doi: 10.3109/13816810.2016.1143017. PMID: 27046515
Diekman EF, de Koning TJ, Verhoeven-Duif NM, Rovers MM, van Hasselt PM
JAMA Neurol 2014 Feb;71(2):188-94. doi: 10.1001/jamaneurol.2013.4915. PMID: 24323041

Prognosis

Yverneau M, Leroux S, Imbard A, Gleich F, Arion A, Moreau C, Nassogne MC, Szymanowski M, Tardieu M, Touati G, Bueno M, Chapman KA, Chien YH, Huemer M, Ješina P, Janssen MCH, Kölker S, Kožich V, Lavigne C, Lund AM, Mochel F, Morris A, Pons MR, Porras-Hurtado GL, Benoist JF, Damaj L, Schiff M; E-HOD Consortium.
J Inherit Metab Dis 2022 Jul;45(4):848-861. Epub 2022 May 9 doi: 10.1002/jimd.12504. PMID: 35460084
Savojardo C, Babbi G, Baldazzi D, Martelli PL, Casadio R
Int J Mol Sci 2021 Dec 23;23(1) doi: 10.3390/ijms23010167. PMID: 35008593Free PMC Article
Marelli C, Lavigne C, Stepien KM, Janssen MCH, Feillet F, Kožich V, Jesina P, Schule R, Kessler C, Redonnet-Vernhet I, Regnier A, Burda P, Baumgartner M, Benoist JF, Huemer M, Mochel F; E-HOD Consortium.
J Inherit Metab Dis 2021 May;44(3):777-786. Epub 2020 Nov 2 doi: 10.1002/jimd.12323. PMID: 33089527
Huemer M, Mulder-Bleile R, Burda P, Froese DS, Suormala T, Zeev BB, Chinnery PF, Dionisi-Vici C, Dobbelaere D, Gökcay G, Demirkol M, Häberle J, Lossos A, Mengel E, Morris AA, Niezen-Koning KE, Plecko B, Parini R, Rokicki D, Schiff M, Schimmel M, Sewell AC, Sperl W, Spiekerkoetter U, Steinmann B, Taddeucci G, Trejo-Gabriel-Galán JM, Trefz F, Tsuji M, Vilaseca MA, von Kleist-Retzow JC, Walker V, Zeman J, Baumgartner MR, Fowler B
J Inherit Metab Dis 2016 Jan;39(1):115-24. Epub 2015 May 30 doi: 10.1007/s10545-015-9860-6. PMID: 26025547Free PMC Article
Diekman EF, de Koning TJ, Verhoeven-Duif NM, Rovers MM, van Hasselt PM
JAMA Neurol 2014 Feb;71(2):188-94. doi: 10.1001/jamaneurol.2013.4915. PMID: 24323041

Clinical prediction guides

Yverneau M, Leroux S, Imbard A, Gleich F, Arion A, Moreau C, Nassogne MC, Szymanowski M, Tardieu M, Touati G, Bueno M, Chapman KA, Chien YH, Huemer M, Ješina P, Janssen MCH, Kölker S, Kožich V, Lavigne C, Lund AM, Mochel F, Morris A, Pons MR, Porras-Hurtado GL, Benoist JF, Damaj L, Schiff M; E-HOD Consortium.
J Inherit Metab Dis 2022 Jul;45(4):848-861. Epub 2022 May 9 doi: 10.1002/jimd.12504. PMID: 35460084
Moirangthem A, Saxena D, Masih S, Shambhavi A, Nilay M, Phadke SR
Clin Dysmorphol 2022 Apr 1;31(2):59-65. doi: 10.1097/MCD.0000000000000407. PMID: 34845156
Savojardo C, Babbi G, Baldazzi D, Martelli PL, Casadio R
Int J Mol Sci 2021 Dec 23;23(1) doi: 10.3390/ijms23010167. PMID: 35008593Free PMC Article
Marelli C, Lavigne C, Stepien KM, Janssen MCH, Feillet F, Kožich V, Jesina P, Schule R, Kessler C, Redonnet-Vernhet I, Regnier A, Burda P, Baumgartner M, Benoist JF, Huemer M, Mochel F; E-HOD Consortium.
J Inherit Metab Dis 2021 May;44(3):777-786. Epub 2020 Nov 2 doi: 10.1002/jimd.12323. PMID: 33089527
Huemer M, Diodato D, Martinelli D, Olivieri G, Blom H, Gleich F, Kölker S, Kožich V, Morris AA, Seifert B, Froese DS, Baumgartner MR, Dionisi-Vici C; EHOD consortium., Martin CA, Baethmann M, Ballhausen D, Blasco-Alonso J, Boy N, Bueno M, Burgos Peláez R, Cerone R, Chabrol B, Chapman KA, Couce ML, Crushell E, Dalmau Serra J, Diogo L, Ficicioglu C, García Jimenez MC, García Silva MT, Gaspar AM, Gautschi M, González-Lamuño D, Gouveia S, Grünewald S, Hendriksz C, Janssen MCH, Jesina P, Koch J, Konstantopoulou V, Lavigne C, Lund AM, Martins EG, Meavilla Olivas S, Mention K, Mochel F, Mundy H, Murphy E, Paquay S, Pedrón-Giner C, Ruiz Gómez MA, Santra S, Schiff M, Schwartz IV, Scholl-Bürgi S, Servais A, Skouma A, Tran C, Vives Piñera I, Walter J, Weisfeld-Adams J
J Inherit Metab Dis 2019 Mar;42(2):333-352. Epub 2019 Feb 17 doi: 10.1002/jimd.12041. PMID: 30773687

Recent systematic reviews

Zeng H, He D, Zhao Y, Liu NG, Xie H
Arch Gynecol Obstet 2021 Apr;303(4):1089-1098. Epub 2020 Oct 31 doi: 10.1007/s00404-020-05851-5. PMID: 33128585
Chen F, Wen T, Lv Q, Liu F
Nutr Cancer 2020;72(7):1211-1218. Epub 2019 Oct 29 doi: 10.1080/01635581.2019.1677924. PMID: 31661627
Huemer M, Kožich V, Rinaldo P, Baumgartner MR, Merinero B, Pasquini E, Ribes A, Blom HJ
J Inherit Metab Dis 2015 Nov;38(6):1007-19. Epub 2015 Mar 12 doi: 10.1007/s10545-015-9830-z. PMID: 25762406Free PMC Article

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