Format

Send to:

Choose Destination

Acetylcarnitine deficiency

MedGen UID:
419329
Concept ID:
C2931083
Disease or Syndrome
 

Recent clinical studies

Etiology

Veronese N, Stubbs B, Solmi M, Ajnakina O, Carvalho AF, Maggi S
Psychosom Med 2018 Feb/Mar;80(2):154-159. doi: 10.1097/PSY.0000000000000537. PMID: 29076953
Maldonado C, Guevara N, Queijo C, González R, Fagiolino P, Vázquez M
Biomed Res Int 2016;2016:2920108. Epub 2016 Feb 21 doi: 10.1155/2016/2920108. PMID: 26998483Free PMC Article
Diekman EF, Visser G, Schmitz JP, Nievelstein RA, de Sain-van der Velden M, Wardrop M, Van der Pol WL, Houten SM, van Riel NA, Takken T, Jeneson JA
PLoS One 2016;11(2):e0147818. Epub 2016 Feb 16 doi: 10.1371/journal.pone.0147818. PMID: 26881790Free PMC Article
Dayaldasani A, Ruiz-Escalera J, Rodríguez-Espinosa M, Rueda I, Pérez-Valero V, Yahyaoui R
Int J Vitam Nutr Res 2014;84(1-2):92-7. doi: 10.1024/0300-9831/a000196. PMID: 25835239
Hori T, Fukao T, Kobayashi H, Teramoto T, Takayanagi M, Hasegawa Y, Yasuno T, Yamaguchi S, Kondo N
Tohoku J Exp Med 2010 Jul;221(3):191-5. PMID: 20543534

Diagnosis

Nasca C, Bigio B, Lee FS, Young SP, Kautz MM, Albright A, Beasley J, Millington DS, Mathé AA, Kocsis JH, Murrough JW, McEwen BS, Rasgon N
Proc Natl Acad Sci U S A 2018 Aug 21;115(34):8627-8632. Epub 2018 Jul 30 doi: 10.1073/pnas.1801609115. PMID: 30061399Free PMC Article
Al-Dirbashi OY, McIntosh N, Chakraborty P
J Med Screen 2017 Jun;24(2):58-61. Epub 2016 May 22 doi: 10.1177/0969141316645824. PMID: 27216769
Han L, Wu S, Ye J, Qiu W, Zhang H, Gao X, Wang Y, Gong Z, Jin J, Gu X
Am J Med Genet A 2015 Oct;167A(10):2300-5. Epub 2015 May 17 doi: 10.1002/ajmg.a.37147. PMID: 25982642
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
Yokoi K, Ito T, Maeda Y, Nakajima Y, Kurono Y, Sugiyama N, Togari H
Brain Dev 2009 Nov;31(10):775-8. Epub 2009 Feb 6 doi: 10.1016/j.braindev.2008.12.016. PMID: 19201116

Therapy

Arony DA, Gazda S, Kitara DL
Pan Afr Med J 2018;30:115. Epub 2018 Jun 12 doi: 10.11604/pamj.2018.30.115.13634. PMID: 30364427Free PMC Article
Nasca C, Bigio B, Lee FS, Young SP, Kautz MM, Albright A, Beasley J, Millington DS, Mathé AA, Kocsis JH, Murrough JW, McEwen BS, Rasgon N
Proc Natl Acad Sci U S A 2018 Aug 21;115(34):8627-8632. Epub 2018 Jul 30 doi: 10.1073/pnas.1801609115. PMID: 30061399Free PMC Article
Maldonado C, Guevara N, Queijo C, González R, Fagiolino P, Vázquez M
Biomed Res Int 2016;2016:2920108. Epub 2016 Feb 21 doi: 10.1155/2016/2920108. PMID: 26998483Free PMC Article
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
Dayaldasani A, Ruiz-Escalera J, Rodríguez-Espinosa M, Rueda I, Pérez-Valero V, Yahyaoui R
Int J Vitam Nutr Res 2014;84(1-2):92-7. doi: 10.1024/0300-9831/a000196. PMID: 25835239

Prognosis

Kamei Y, Kamei D, Tsuchiya K, Mineshima M, Nitta K
PLoS One 2018;13(8):e0201591. Epub 2018 Aug 22 doi: 10.1371/journal.pone.0201591. PMID: 30133480Free PMC Article
Nasca C, Bigio B, Lee FS, Young SP, Kautz MM, Albright A, Beasley J, Millington DS, Mathé AA, Kocsis JH, Murrough JW, McEwen BS, Rasgon N
Proc Natl Acad Sci U S A 2018 Aug 21;115(34):8627-8632. Epub 2018 Jul 30 doi: 10.1073/pnas.1801609115. PMID: 30061399Free PMC Article
Al-Dirbashi OY, McIntosh N, Chakraborty P
J Med Screen 2017 Jun;24(2):58-61. Epub 2016 May 22 doi: 10.1177/0969141316645824. PMID: 27216769
Dayaldasani A, Ruiz-Escalera J, Rodríguez-Espinosa M, Rueda I, Pérez-Valero V, Yahyaoui R
Int J Vitam Nutr Res 2014;84(1-2):92-7. doi: 10.1024/0300-9831/a000196. PMID: 25835239
Hori T, Fukao T, Kobayashi H, Teramoto T, Takayanagi M, Hasegawa Y, Yasuno T, Yamaguchi S, Kondo N
Tohoku J Exp Med 2010 Jul;221(3):191-5. PMID: 20543534

Clinical prediction guides

Arony DA, Gazda S, Kitara DL
Pan Afr Med J 2018;30:115. Epub 2018 Jun 12 doi: 10.11604/pamj.2018.30.115.13634. PMID: 30364427Free PMC Article
Nasca C, Bigio B, Lee FS, Young SP, Kautz MM, Albright A, Beasley J, Millington DS, Mathé AA, Kocsis JH, Murrough JW, McEwen BS, Rasgon N
Proc Natl Acad Sci U S A 2018 Aug 21;115(34):8627-8632. Epub 2018 Jul 30 doi: 10.1073/pnas.1801609115. PMID: 30061399Free PMC Article
Diekman EF, Visser G, Schmitz JP, Nievelstein RA, de Sain-van der Velden M, Wardrop M, Van der Pol WL, Houten SM, van Riel NA, Takken T, Jeneson JA
PLoS One 2016;11(2):e0147818. Epub 2016 Feb 16 doi: 10.1371/journal.pone.0147818. PMID: 26881790Free PMC Article
Dayaldasani A, Ruiz-Escalera J, Rodríguez-Espinosa M, Rueda I, Pérez-Valero V, Yahyaoui R
Int J Vitam Nutr Res 2014;84(1-2):92-7. doi: 10.1024/0300-9831/a000196. PMID: 25835239
Yokoi K, Ito T, Maeda Y, Nakajima Y, Kurono Y, Sugiyama N, Togari H
Brain Dev 2009 Nov;31(10):775-8. Epub 2009 Feb 6 doi: 10.1016/j.braindev.2008.12.016. PMID: 19201116

Recent systematic reviews

Veronese N, Stubbs B, Solmi M, Ajnakina O, Carvalho AF, Maggi S
Psychosom Med 2018 Feb/Mar;80(2):154-159. doi: 10.1097/PSY.0000000000000537. PMID: 29076953
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

Supplemental Content

Table of contents

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...
    Support Center