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acetylcarnitine and Fragile X Syndrome

acetylcarnitine has been researched along with Fragile X Syndrome in 9 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.

Fragile X Syndrome: A condition characterized genotypically by mutation of the distal end of the long arm of the X chromosome (at gene loci FRAXA or FRAXE) and phenotypically by cognitive impairment, hyperactivity, SEIZURES, language delay, and enlargement of the ears, head, and testes. INTELLECTUAL DISABILITY occurs in nearly all males and roughly 50% of females with the full mutation of FRAXA. (From Menkes, Textbook of Child Neurology, 5th ed, p226)

Research Excerpts

ExcerptRelevanceReference
"The fragile X syndrome is caused by a >200 CGG repeat expansion within the FMR1 gene promoter, with consequent DNA hypermethylation and inactivation of its expression."1.33Differential epigenetic modifications in the FMR1 gene of the fragile X syndrome after reactivating pharmacological treatments. ( Chiurazzi, P; Moscato, U; Neri, G; Oostra, BA; Pietrobono, R; Tabolacci, E, 2005)

Research

Studies (9)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's2 (22.22)18.2507
2000's6 (66.67)29.6817
2010's1 (11.11)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Rueda, JR2
Guillén, V1
Ballesteros, J2
Tejada, MI2
Solà, I1
Hall, SS1
Calvani, M4
D'Iddio, S2
de Gaetano, A2
Mariotti, P2
Mosconi, L1
Pomponi, MG3
Tabolacci, E3
Torrioli, MG3
Vernacotola, S3
Neri, G6
Pascale, E1
Battiloro, E1
Cimino Reale, G1
Pietrobono, R2
Chiurazzi, P4
Nicolai, R1
D'Ambrosio, E1
Moscato, U2
Oostra, BA1
Peruzzi, L1
Mila, M1
Militerni, R1
Musumeci, S1
Ramos, FJ1
Frontera, M1
Sorge, G1
Marzullo, E1
Romeo, G1
Vallee, L1
Veneselli, E1
Cocchi, E1
Garbarino, E1
Bianchi, E1

Reviews

3 reviews available for acetylcarnitine and Fragile X Syndrome

ArticleYear
L-acetylcarnitine for treating fragile X syndrome.
    The Cochrane database of systematic reviews, 2015, May-19, Issue:5

    Topics: Acetylcarnitine; Administration, Oral; Adolescent; Attention Deficit Disorder with Hyperactivity; Ch

2015
Systematic review of pharmacological treatments in fragile X syndrome.
    BMC neurology, 2009, Oct-13, Volume: 9

    Topics: Acetylcarnitine; Dioxoles; Folic Acid; Fragile X Syndrome; Humans; Methylphenidate; Piperidines; Tre

2009
Treatments for fragile X syndrome: a closer look at the data.
    Developmental disabilities research reviews, 2009, Volume: 15, Issue:4

    Topics: Acetylcarnitine; Adrenergic alpha-Agonists; Behavior Therapy; Central Nervous System Stimulants; Clo

2009

Trials

3 trials available for acetylcarnitine and Fragile X Syndrome

ArticleYear
[L-acetylcarnitine treatment on fragile X patients hyperactive behaviour].
    Revista de neurologia, 2001, Volume: 33 Suppl 1

    Topics: Acetylcarnitine; Child; Child Behavior Disorders; Clinical Trials as Topic; Fragile X Syndrome; Huma

2001
A double-blind, parallel, multicenter comparison of L-acetylcarnitine with placebo on the attention deficit hyperactivity disorder in fragile X syndrome boys.
    American journal of medical genetics. Part A, 2008, Apr-01, Volume: 146A, Issue:7

    Topics: Acetylcarnitine; Adolescent; Attention Deficit Disorder with Hyperactivity; Child; Double-Blind Meth

2008
Double-blind, placebo-controlled study of L-acetylcarnitine for the treatment of hyperactive behavior in fragile X syndrome.
    American journal of medical genetics, 1999, Dec-03, Volume: 87, Issue:4

    Topics: Acetylcarnitine; Adolescent; Attention Deficit Disorder with Hyperactivity; Child; Double-Blind Meth

1999

Other Studies

3 other studies available for acetylcarnitine and Fragile X Syndrome

ArticleYear
Modulation of methylation in the FMR1 promoter region after long term treatment with L-carnitine and acetyl-L-carnitine.
    Journal of medical genetics, 2003, Volume: 40, Issue:6

    Topics: Acetylcarnitine; Carnitine; Cells, Cultured; DNA Methylation; Fragile X Mental Retardation Protein;

2003
Differential epigenetic modifications in the FMR1 gene of the fragile X syndrome after reactivating pharmacological treatments.
    European journal of human genetics : EJHG, 2005, Volume: 13, Issue:5

    Topics: Acetylation; Acetylcarnitine; Azacitidine; Cell Line; Chromatin Immunoprecipitation; Decitabine; DNA

2005
Butyrate and acetyl-carnitine inhibit the cytogenetic expression of the fragile X in vitro.
    American journal of medical genetics, 1994, Jul-15, Volume: 51, Issue:4

    Topics: Acetylation; Acetylcarnitine; Adolescent; Adult; Aged; Butyrates; Butyric Acid; Cells, Cultured; Chi

1994