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3-hydroxybutyric acid and Inborn Errors of Metabolism

3-hydroxybutyric acid has been researched along with Inborn Errors of Metabolism in 9 studies

3-Hydroxybutyric Acid: BUTYRIC ACID substituted in the beta or 3 position. It is one of the ketone bodies produced in the liver.
3-hydroxybutyric acid : A straight-chain 3-hydroxy monocarboxylic acid comprising a butyric acid core with a single hydroxy substituent in the 3- position; a ketone body whose levels are raised during ketosis, used as an energy source by the brain during fasting in humans. Also used to synthesise biodegradable plastics.

Research Excerpts

ExcerptRelevanceReference
"L-carnitine treatment prevented this fall in plasma carnitine and resulted in greater increases in excretion of acylcarnitines."2.71L-carnitine and exercise tolerance in medium-chain acyl-coenzyme A dehydrogenase (MCAD) deficiency: a pilot study. ( Chalmers, RA; Harrison, EL; Jones, MG; Jones, S; Lee, PJ; Leonard, JV, 2005)
"Normally, the presence of ketosis implies 2 things: that lipid energy metabolism has been activated and that the entire pathway of lipid degradation is intact."2.39Medical aspects of ketone body metabolism. ( Ashmarina, L; Boukaftane, Y; Kassovska-Bratinova, S; Lambert, M; Lapierre, P; Mitchell, GA; Potier, E; Robert, MF; Wang, SP, 1995)
"Patients with hereditary fructose intolerance, a rare inborn error of metabolism caused by a defect in aldolase B (n = 15), and healthy persons matched for age, sex, and body mass index (BMI) (n =15)."1.51Patients With Aldolase B Deficiency Are Characterized by Increased Intrahepatic Triglyceride Content. ( Bons, JAP; Brouwers, MCGJ; Cassiman, D; Debray, FG; Feskens, EJM; Hodson, L; Hollak, CEM; Koek, GH; Kooi, ME; Lefeber, DJ; Lindeboom, L; Schalkwijk, CG; Schaper, NC; Simons, N; Stehouwer, CDA, 2019)
"Creatine excretion was measured in two patients with methylmalonic aciduria and two patients with 3-hydroxy-3-methylglutaric aciduria."1.28Creatine metabolism during metabolic perturbations in patients with organic acidurias. ( Chalmers, RA; Davies, SE; Iles, RA; Stacey, TE, 1990)

Research

Studies (9)

TimeframeStudies, this research(%)All Research%
pre-19901 (11.11)18.7374
1990's4 (44.44)18.2507
2000's3 (33.33)29.6817
2010's1 (11.11)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Simons, N1
Debray, FG1
Schaper, NC1
Kooi, ME1
Feskens, EJM1
Hollak, CEM1
Lindeboom, L1
Koek, GH1
Bons, JAP1
Lefeber, DJ1
Hodson, L1
Schalkwijk, CG1
Stehouwer, CDA1
Cassiman, D1
Brouwers, MCGJ1
Carragher, FM1
Bonham, JR1
Smith, JM1
Lee, PJ1
Harrison, EL1
Jones, MG1
Jones, S1
Leonard, JV1
Chalmers, RA2
Mitchell, GA1
Kassovska-Bratinova, S1
Boukaftane, Y1
Robert, MF1
Wang, SP1
Ashmarina, L1
Lambert, M1
Lapierre, P1
Potier, E1
Marsden, D1
Barshop, BA1
Capistrano-Estrada, S1
Rice, M1
Prodanos, C1
Sartoris, D1
Wolff, J1
Jones, KL1
Spector, S1
Nyhan, WL1
Fukao, T1
Song, XQ1
Watanabe, H1
Hirayama, K1
Sakazaki, H1
Shintaku, H1
Imanaka, M1
Orii, T1
Kondo, N1
Fletcher, JM1
Pitt, JJ1
Davies, SE1
Iles, RA1
Stacey, TE1
Peterson, C1
Goldman, JE1

Clinical Trials (1)

Trial Overview

TrialPhaseEnrollmentStudy TypeStart DateStatus
Fasting Tolerance in Patients With Medium-chain Acyl-CoA Dehydrogenase Deficiency (MCADD) in the First Six Months of Life: an Investigator-initiated Human Pilot-study[NCT03761693]20 participants (Anticipated)Interventional2019-05-15Recruiting
[information is prepared from clinicaltrials.gov, extracted Sep-2024]

Reviews

1 review available for 3-hydroxybutyric acid and Inborn Errors of Metabolism

ArticleYear
Medical aspects of ketone body metabolism.
    Clinical and investigative medicine. Medecine clinique et experimentale, 1995, Volume: 18, Issue:3

    Topics: 3-Hydroxybutyric Acid; Acetoacetates; Acetone; Biological Evolution; Brain; Humans; Hydroxybutyrates

1995

Trials

2 trials available for 3-hydroxybutyric acid and Inborn Errors of Metabolism

ArticleYear
L-carnitine and exercise tolerance in medium-chain acyl-coenzyme A dehydrogenase (MCAD) deficiency: a pilot study.
    Journal of inherited metabolic disease, 2005, Volume: 28, Issue:2

    Topics: 3-Hydroxybutyric Acid; Acids; Acyl-CoA Dehydrogenase; Adolescent; Adult; Anaerobic Threshold; Blood

2005
Fasting medium chain acyl-coenzyme A dehydrogenase--deficient children can make ketones.
    Metabolism: clinical and experimental, 2001, Volume: 50, Issue:2

    Topics: 3-Hydroxybutyric Acid; Acetoacetates; Acyl-CoA Dehydrogenase; Age of Onset; Carbon Isotopes; Child;

2001

Other Studies

6 other studies available for 3-hydroxybutyric acid and Inborn Errors of Metabolism

ArticleYear
Patients With Aldolase B Deficiency Are Characterized by Increased Intrahepatic Triglyceride Content.
    The Journal of clinical endocrinology and metabolism, 2019, 11-01, Volume: 104, Issue:11

    Topics: 3-Hydroxybutyric Acid; Adult; Blood Glucose; Body Composition; Body Mass Index; Case-Control Studies

2019
Pitfalls in the measurement of some intermediary metabolites.
    Annals of clinical biochemistry, 2003, Volume: 40, Issue:Pt 4

    Topics: 3-Hydroxybutyric Acid; Artifacts; Biomarkers; Diagnostic Techniques and Procedures; Fatty Acids, Non

2003
Anabolic effect of human growth hormone: management of inherited disorders of catabolic pathways.
    Biochemical medicine and metabolic biology, 1994, Volume: 52, Issue:2

    Topics: 3-Hydroxybutyric Acid; Adolescent; Age Determination by Skeleton; Bone Density; Child; Dietary Prote

1994
Prenatal diagnosis of succinyl-coenzyme A:3-ketoacid coenzyme A transferase deficiency.
    Prenatal diagnosis, 1996, Volume: 16, Issue:5

    Topics: 3-Hydroxybutyric Acid; Acetoacetates; Acetyl-CoA C-Acetyltransferase; Amniocentesis; Amniotic Fluid;

1996
Creatine metabolism during metabolic perturbations in patients with organic acidurias.
    Clinica chimica acta; international journal of clinical chemistry, 1990, Dec-24, Volume: 194, Issue:2-3

    Topics: 3-Hydroxybutyric Acid; Carnitine; Child; Child, Preschool; Creatine; Creatinine; Female; Humans; Hyd

1990
In vitro acetylcholine synthesis and oxidative metabolism during development of normal and brindled mouse brain.
    Brain research, 1986, Volume: 394, Issue:2

    Topics: 3-Hydroxybutyric Acid; Acetylcholine; Age Factors; Animals; Brain; Choline O-Acetyltransferase; Copp

1986