Page last updated: 2024-10-18

glycerol and Lipid Metabolism, Inborn Error

glycerol has been researched along with Lipid Metabolism, Inborn Error in 14 studies

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Research

Studies (14)

TimeframeStudies, this research(%)All Research%
pre-19909 (64.29)18.7374
1990's1 (7.14)18.2507
2000's2 (14.29)29.6817
2010's1 (7.14)24.3611
2020's1 (7.14)2.80

Authors

AuthorsStudies
Nurjanah, S1
Gerding, A1
Vieira-Lara, MA1
Evers, B1
Langelaar-Makkinje, M1
Spiekerkoetter, U1
Bakker, BM1
Tucci, S1
Haglind, CB1
Nordenström, A1
Ask, S1
von Döbeln, U1
Gustafsson, J1
Stenlid, MH1
Ørngreen, MC1
Ejstrup, R1
Vissing, J1
Kinman, RP1
Kasumov, T1
Jobbins, KA1
Thomas, KR1
Adams, JE1
Brunengraber, LN1
Kutz, G1
Brewer, WU1
Roe, CR1
Brunengraber, H1
Eriksson, A1
Lindstedt, S1
Ransnäs, L1
von Wendt, L1
Igal, RA1
Coleman, RA1
Galton, DJ4
Reckless, JP3
Taitz, LS1
Clifton-Bligh, P1
Cenedella, RJ1
Crouthamel, WG1
Di Donato, S1
Garavaglia, B1
Strisciuglio, P1
Borrone, C1
Andria, G1
Gilbert, C1
Kaye, J1
Beaudet, AL1
Lipson, MH1
Ferry, GD1
Nichols, BL1
Burke, JA1
Schubert, WK1

Clinical Trials (2)

Trial Overview

TrialPhaseEnrollmentStudy TypeStart DateStatus
An Open-Label Trial of Triheptanoin in Patients With Glucose Transporter Type-1 Deficiency Syndrome (GLUT1 DS)[NCT02036853]Phase 220 participants (Actual)Interventional2014-02-20Completed
Prevalence and Mutation Rate of Lipa Gene in LIPIGEN Subjects With Clinical Diagnosis of FH[NCT03984149]1,000 participants (Anticipated)Observational2017-09-01Recruiting
[information is prepared from clinicaltrials.gov, extracted Sep-2024]

Trial Outcomes

Reported Change in Seizure Frequency From Baseline at 4 Years

A seizure diary was used to track date, type, number, and unusual presentation of seizures. Subjects were given a seizure diary at screening to record daily seizure activity for incremental periods of time. Unless otherwise waived, subjects complete this form daily during the screening period and for two weeks prior to each subsequent study visit. The table below represents the change in seizure frequency from baseline for each time point. (NCT02036853)
Timeframe: Baseline and four yrs

Interventionseizures/two weeks (Mean)
Schedule A-8.3
Schedule B-80.3

Reported Change in Seizure Frequency From Baseline at 5 Years

A seizure diary was used to track date, type, number, and unusual presentation of seizures. Subjects were given a seizure diary at screening to record daily seizure activity for incremental periods of time. Unless otherwise waived, subjects complete this form daily during the screening period and for two weeks prior to each subsequent study visit. The table below represents the change in seizure frequency from baseline for each time point. (NCT02036853)
Timeframe: Baseline and five yrs

Interventionseizures/two weeks (Mean)
Schedule A23

Reported Change in Seizures Frequency From Baseline at 1 Year

A seizure diary was used to track date, type, number, and unusual presentation of seizures. Subjects were given a seizure diary at screening to record daily seizure activity for incremental periods of time. Unless otherwise waived, subjects complete this form daily during the screening period and for two weeks prior to each subsequent study visit. The table below represents the change in seizure frequency from baseline for each time point. (NCT02036853)
Timeframe: Baseline and one yr

Interventionseizures/two weeks (Mean)
Schedule A-6.5
Schedule B-110.5

Reported Change in Seizures Frequency From Baseline at 13 Weeks

A seizure diary was used to track date, type, number, and unusual presentation of seizures. Subjects were given a seizure diary at screening to record daily seizure activity for incremental periods of time. Unless otherwise waived, subjects complete this form daily during the screening period and for two weeks prior to each subsequent study visit. (NCT02036853)
Timeframe: Baseline and 13 weeks

Interventionseizures/two weeks (Mean)
Schedule A4.4
Schedule B189.5

Reported Change in Seizures Frequency From Baseline at 18 Months

A seizure diary was used to track date, type, number, and unusual presentation of seizures. Subjects were given a seizure diary at screening to record daily seizure activity for incremental periods of time. Unless otherwise waived, subjects complete this form daily during the screening period and for two weeks prior to each subsequent study visit. The table below represents the change in seizure frequency from baseline for each time point. (NCT02036853)
Timeframe: Baseline and 18 months

Interventionseizures/two weeks (Mean)
Schedule A-5.8
Schedule B-112.7

Reported Change in Seizures Frequency From Baseline at 2 Years

A seizure diary was used to track date, type, number, and unusual presentation of seizures. Subjects were given a seizure diary at screening to record daily seizure activity for incremental periods of time. Unless otherwise waived, subjects complete this form daily during the screening period and for two weeks prior to each subsequent study visit. The table below represents the change in seizure frequency from baseline for each time point. (NCT02036853)
Timeframe: Baseline and two yrs

Interventionseizures/two weeks (Mean)
Schedule A-6
Schedule B-61.25

Reported Change in Seizures Frequency From Baseline at 26 Weeks

A seizure diary was used to track date, type, number, and unusual presentation of seizures. Subjects were given a seizure diary at screening to record daily seizure activity for incremental periods of time. Unless otherwise waived, subjects complete this form daily during the screening period and for two weeks prior to each subsequent study visit. The table below represents the change in seizure frequency from baseline for each time point. (NCT02036853)
Timeframe: Baseline and 26 weeks

Interventionseizures/two weeks (Mean)
Schedule A-5.6
Schedule B-78

Reported Change in Seizures Frequency From Baseline at 3 Years

A seizure diary was used to track date, type, number, and unusual presentation of seizures. Subjects were given a seizure diary at screening to record daily seizure activity for incremental periods of time. Unless otherwise waived, subjects complete this form daily during the screening period and for two weeks prior to each subsequent study visit. The table below represents the change in seizure frequency from baseline for each time point. (NCT02036853)
Timeframe: Baseline and three yrs

Interventionseizures/two weeks (Mean)
Schedule A-0.8
Schedule B-77

Reviews

1 review available for glycerol and Lipid Metabolism, Inborn Error

ArticleYear
The triglyceride storage diseases--a review.
    International journal of obesity, 1977, Volume: 1, Issue:1

    Topics: Adenylyl Cyclases; Adipose Tissue; Child, Preschool; Chromatography, Thin Layer; Diagnosis, Differen

1977

Trials

1 trial available for glycerol and Lipid Metabolism, Inborn Error

ArticleYear
Effect of diet on exercise tolerance in carnitine palmitoyltransferase II deficiency.
    Neurology, 2003, Aug-26, Volume: 61, Issue:4

    Topics: Alanine; Blood Glucose; Carnitine O-Palmitoyltransferase; Creatine Kinase; Creatine Kinase, MM Form;

2003

Other Studies

12 other studies available for glycerol and Lipid Metabolism, Inborn Error

ArticleYear
Heptanoate Improves Compensatory Mechanism of Glucose Homeostasis in Mitochondrial Long-Chain Fatty Acid Oxidation Defect.
    Nutrients, 2023, Nov-05, Volume: 15, Issue:21

    Topics: Acyl-CoA Dehydrogenase, Long-Chain; Animals; Fatty Acids; Glucose; Glycerol; Heptanoates; Homeostasi

2023
Increased and early lipolysis in children with long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency during fast.
    Journal of inherited metabolic disease, 2015, Volume: 38, Issue:2

    Topics: 3-Hydroxyacyl CoA Dehydrogenases; Age Factors; Biomarkers; Blood Glucose; Calorimetry, Indirect; Car

2015
Parenteral and enteral metabolism of anaplerotic triheptanoin in normal rats.
    American journal of physiology. Endocrinology and metabolism, 2006, Volume: 291, Issue:4

    Topics: Animals; Blood Glucose; Enteral Nutrition; Glycerol; Heptanoates; Infusions, Intravenous; Ketone Bod

2006
Deficiency of glycerol kinase (EC 2.7.1.30).
    Clinical chemistry, 1983, Volume: 29, Issue:4

    Topics: Blood Glucose; Child; Fasting; Gas Chromatography-Mass Spectrometry; Glycerol; Glycerol Kinase; Huma

1983
Neutral lipid storage disease: a genetic disorder with abnormalities in the regulation of phospholipid metabolism.
    Journal of lipid research, 1998, Volume: 39, Issue:1

    Topics: Cells, Cultured; Choline; Cytidine Diphosphate; Cytidine Diphosphate Choline; Diglycerides; Ethanola

1998
Triglyceride storage disease. A report of two affected children associated with neurological abnormalities.
    Acta paediatrica Scandinavica, 1976, Volume: 65, Issue:6

    Topics: Abnormalities, Multiple; Adipose Tissue; Child, Preschool; Cyclic AMP; Deafness; Female; Glycerol; H

1976
The hypertriglyceridaemias: a heterogeneous group of metabolic disorders.
    Biochemical Society transactions, 1976, Volume: 4, Issue:4

    Topics: Adipose Tissue; Diabetes Mellitus; Fasting; Glycerol; Humans; Insulin; Kinetics; Lipase; Lipid Metab

1976
Halofenate and clofibrate: mechanism of hypotriglyceridemic action in the rat.
    Journal of lipid research, 1976, Volume: 17, Issue:2

    Topics: Animals; Clofibrate; Dietary Fats; Disease Models, Animal; Glycerol; Glycerophosphates; Glycolates;

1976
Multisystem triglyceride storage disease is due to a specific defect in the degradation of endocellularly synthesized triglycerides.
    Neurology, 1988, Volume: 38, Issue:7

    Topics: Cells, Cultured; Child, Preschool; Female; Fibroblasts; Glycerol; Humans; Ichthyosis; Infant; Lipid

1988
Triglyceride storage disease. A group of inborn errors of triglyceride metabolism.
    The Quarterly journal of medicine, 1974, Volume: 43, Issue:169

    Topics: Adenylyl Cyclases; Adipose Tissue; Adult; Carbon Radioisotopes; Cyclic AMP; Female; Glucose; Glycero

1974
Acid lipase in cultured fibroblasts: cholesterol ester storage disease.
    The Journal of laboratory and clinical medicine, 1974, Volume: 84, Issue:1

    Topics: Amniotic Fluid; Carbon Radioisotopes; Cells, Cultured; Cholesterol; Esters; Female; Fibroblasts; Gly

1974
Deficient activity of hepatic acid lipase in cholesterol ester storage disease.
    Science (New York, N.Y.), 1972, Apr-21, Volume: 176, Issue:4032

    Topics: Cholesterol; Colorimetry; Fatty Acids; Glycerol; Humans; Lipase; Lipid Metabolism, Inborn Errors; Li

1972