Page last updated: 2024-10-16

betaine and Inborn Errors of Metabolism

betaine has been researched along with Inborn Errors of Metabolism in 10 studies

glycine betaine : The amino acid betaine derived from glycine.

Research Excerpts

ExcerptRelevanceReference
"A patient with infantile onset methylmalonic aciduria and homocystinuria (Cbl-C mutant) is described."7.68Methylmalonic aciduria with homocystinuria: biochemical studies, treatment, and clinical course of a Cbl-C patient. ( Baumgartner, R; Briones, P; Campistol, J; Lluch, M; Maya, A; Pascual, P; Ribes, A; Rodes, M; Suormala, T; Vilaseca, MA, 1990)
"A patient with infantile onset methylmalonic aciduria and homocystinuria (Cbl-C mutant) is described."3.68Methylmalonic aciduria with homocystinuria: biochemical studies, treatment, and clinical course of a Cbl-C patient. ( Baumgartner, R; Briones, P; Campistol, J; Lluch, M; Maya, A; Pascual, P; Ribes, A; Rodes, M; Suormala, T; Vilaseca, MA, 1990)
"Predominant clinical features include microcephaly, hydrocephalus, seizures, and white-matter changes on magnetic resonance imaging in early-onset cases."1.31Practical management of combined methylmalonicaciduria and homocystinuria. ( Bodamer, OA; Smith, DL, 2002)

Research

Studies (10)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's4 (40.00)18.2507
2000's3 (30.00)29.6817
2010's3 (30.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Iodice, FG1
Di Chiara, L1
Boenzi, S1
Aiello, C1
Monti, L1
Cogo, P1
Dionisi-Vici, C1
Ruiz-Mercado, M1
Vargas, MT1
de Soto, IP1
Pecellín, CD1
Sánchez, MC1
Delgado, MA1
Ruiz, RB1
Pérez-Simón, JA1
Díaz-Aguado, AH1
Lever, M1
McEntyre, CJ1
George, PM1
Chambers, ST1
Smith, DL1
Bodamer, OA2
Busby, MG1
Fischer, L1
da Costa, KA1
Thompson, D1
Mar, MH1
Zeisel, SH1
Huemer, M1
Simma, B1
Fowler, B1
Suormala, T2
Sass, JO1
Allen, RH1
Stabler, SP1
Lindenbaum, J1
Haworth, JC1
Dilling, LA1
Surtees, RA1
Seargeant, LE1
Lue-Shing, H1
Cooper, BA1
Rosenblatt, DS1
Ogier de Baulny, H1
Gérard, M1
Saudubray, JM1
Zittoun, J1
Ribes, A1
Briones, P1
Vilaseca, MA1
Lluch, M1
Rodes, M1
Maya, A1
Campistol, J1
Pascual, P1
Baumgartner, R1

Reviews

1 review available for betaine and Inborn Errors of Metabolism

ArticleYear
Remethylation defects: guidelines for clinical diagnosis and treatment.
    European journal of pediatrics, 1998, Volume: 157 Suppl 2

    Topics: 5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase; Adult; Betaine; Child, Preschool; Folic A

1998

Other Studies

9 other studies available for betaine and Inborn Errors of Metabolism

ArticleYear
Cobalamin C defect presenting with isolated pulmonary hypertension.
    Pediatrics, 2013, Volume: 132, Issue:1

    Topics: Betaine; Brain; Child, Preschool; Diagnosis, Differential; Drug Therapy, Combination; Folic Acid; Ge

2013
Methionine synthase reductase deficiency (CblE): A report of two patients and a novel mutation.
    Hematology (Amsterdam, Netherlands), 2016, Volume: 21, Issue:3

    Topics: Adult; Amino Acid Substitution; Anemia, Macrocytic; Betaine; Child; Female; Ferredoxin-NADP Reductas

2016
Is N,N-dimethylglycine N-oxide a choline and betaine metabolite?
    Biological chemistry, 2017, 06-27, Volume: 398, Issue:7

    Topics: Adult; Betaine; Choline; Humans; Male; Metabolism, Inborn Errors; Methylamines; Sarcosine; Young Adu

2017
Practical management of combined methylmalonicaciduria and homocystinuria.
    Journal of child neurology, 2002, Volume: 17, Issue:5

    Topics: Adolescent; Adult; Betaine; Carnitine; Child; Child, Preschool; Female; Folic Acid; Gastrointestinal

2002
Choline- and betaine-defined diets for use in clinical research and for the management of trimethylaminuria.
    Journal of the American Dietetic Association, 2004, Volume: 104, Issue:12

    Topics: Betaine; Choline; Dietary Supplements; Dietetics; Dose-Response Relationship, Drug; Food Analysis; H

2004
Prenatal and postnatal treatment in cobalamin C defect.
    The Journal of pediatrics, 2005, Volume: 147, Issue:4

    Topics: Betaine; Carnitine; Female; Folic Acid; Hematinics; Humans; Hydroxocobalamin; Infant, Newborn; Lipot

2005
Serum betaine, N,N-dimethylglycine and N-methylglycine levels in patients with cobalamin and folate deficiency and related inborn errors of metabolism.
    Metabolism: clinical and experimental, 1993, Volume: 42, Issue:11

    Topics: Adolescent; Adult; Aged; Animals; Betaine; Betaine-Homocysteine S-Methyltransferase; Chromatography;

1993
Symptomatic and asymptomatic methylenetetrahydrofolate reductase deficiency in two adult brothers.
    American journal of medical genetics, 1993, Mar-01, Volume: 45, Issue:5

    Topics: Adult; Betaine; Enzyme Stability; Folic Acid; Homocystine; Humans; Male; Metabolism, Inborn Errors;

1993
Methylmalonic aciduria with homocystinuria: biochemical studies, treatment, and clinical course of a Cbl-C patient.
    European journal of pediatrics, 1990, Volume: 149, Issue:6

    Topics: Betaine; Child, Preschool; Female; Homocystinuria; Humans; Infant; Male; Malonates; Metabolism, Inbo

1990