Page last updated: 2024-10-15

acetylcarnitine and CBS Deficiency

acetylcarnitine has been researched along with CBS Deficiency in 2 studies

Acetylcarnitine: An acetic acid ester of CARNITINE that facilitates movement of ACETYL COA into the matrices of mammalian MITOCHONDRIA during the oxidation of FATTY ACIDS.

Research Excerpts

ExcerptRelevanceReference
" However, there is robust evidence for the success of early treatment with diet, betaine and/or pyridoxine for CBS deficiency and good evidence for the success of early betaine treatment in severe MTHFR deficiency."4.91Newborn screening for homocystinurias and methylation disorders: systematic review and proposed guidelines. ( Baumgartner, MR; Blom, HJ; Huemer, M; Kožich, V; Merinero, B; Pasquini, E; Ribes, A; Rinaldo, P, 2015)

Research

Studies (2)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's0 (0.00)18.2507
2000's0 (0.00)29.6817
2010's2 (100.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Keller, R1
Chrastina, P1
Pavlíková, M1
Gouveia, S1
Ribes, A2
Kölker, S1
Blom, HJ2
Baumgartner, MR2
Bártl, J1
Dionisi-Vici, C1
Gleich, F1
Morris, AA1
Kožich, V2
Huemer, M2
Barić, I1
Ben-Omran, T1
Blasco-Alonso, J1
Bueno Delgado, MA1
Carducci, C1
Cassanello, M1
Cerone, R1
Couce, ML1
Crushell, E1
Delgado Pecellin, C1
Dulin, E1
Espada, M1
Ferino, G1
Fingerhut, R1
Garcia Jimenez, I1
Gonzalez Gallego, I1
González-Irazabal, Y1
Gramer, G1
Juan Fita, MJ1
Karg, E1
Klein, J1
Konstantopoulou, V1
la Marca, G1
Leão Teles, E1
Leuzzi, V1
Lilliu, F1
Lopez, RM1
Lund, AM1
Mayne, P1
Meavilla, S1
Moat, SJ1
Okun, JG1
Pasquini, E2
Pedron-Giner, CC1
Racz, GZ1
Ruiz Gomez, MA1
Vilarinho, L1
Yahyaoui, R1
Zerjav Tansek, M1
Zetterström, RH1
Zeyda, M1
Rinaldo, P1
Merinero, B1

Reviews

1 review available for acetylcarnitine and CBS Deficiency

ArticleYear
Newborn screening for homocystinurias and methylation disorders: systematic review and proposed guidelines.
    Journal of inherited metabolic disease, 2015, Volume: 38, Issue:6

    Topics: Acetylcarnitine; Betaine; Carnitine; Homocystinuria; Humans; Infant, Newborn; Methionine; Methylatio

2015

Other Studies

1 other study available for acetylcarnitine and CBS Deficiency

ArticleYear
Newborn screening for homocystinurias: Recent recommendations versus current practice.
    Journal of inherited metabolic disease, 2019, Volume: 42, Issue:1

    Topics: Acetylcarnitine; Amino Acid Metabolism, Inborn Errors; Carnitine; Female; Glycine N-Methyltransferas

2019