pyruvic acid and Ataxia with Lactic Acidosis 2 studies

Pyruvic Acid: An intermediate compound in the metabolism of carbohydrates, proteins, and fats. In thiamine deficiency, its oxidation is retarded and it accumulates in the tissues, especially in nervous structures. (From Stedman, 26th ed)
pyruvic acid : A 2-oxo monocarboxylic acid that is the 2-keto derivative of propionic acid. It is a metabolite obtained during glycolysis.

Research Excerpts

Excerpt	Relevance	Reference
"Pyruvate dehydrogenase and pyruvate carboxylase deficiency are the most common disorders in pyruvate metabolism."	2.49	Disorders of pyruvate metabolism. ( De Meirleir, L, 2013)
"In females with a pyruvate dehydrogenase deficiency E1alpha owing to the mutation in the subunit E1alpha of the pyruvate dehydrogenase complex West's syndrome associated with large ventricles and corpus callosum agenesis on magnetic resonance imaging can be the main feature of the disease."	2.41	Defects of pyruvate metabolism and the Krebs cycle. ( De Meirleir, L, 2002)
"Isolated pyruvate carboxylase deficiency was found to present in two different forms, one with lactic acidaemia and mental retardation, the other with lactic acidaemia, hyperammonaemia citrullinaemia and hyperlysinaemia."	1.27	Lactic acidaemia. ( Robinson, BH; Sherwood, WG, 1984)
"Treatment with aspartic acid and thiamine over a period of seven years resulted in biochemical improvement and a stable neurological condition."	1.26	A patient with pyruvate carboxylase deficiency in the liver: treatment with aspartic acid and thiamine. ( Baal, MG; Gabreëls, FJ; Gijsbers, TH; Hommes, FA; Kok, JC; Lamers, KJ; Renier, WO, 1981)

Research

Studies (7)

Authors

Clinical Trials (4)

Trial Overview

Trial Outcomes

Number of Participants With Change in Brain Metabolic Rate After 3 Months

Timeframe	Studies, this research(%)	All Research%
pre-1990	3 (42.86)	18.7374
1990's	0 (0.00)	18.2507
2000's	2 (28.57)	29.6817
2010's	2 (28.57)	24.3611
2020's	0 (0.00)	2.80

Authors	Studies
De Meirleir, L	2
Marin-Valencia, I	1
Roe, CR	1
Pascual, JM	1
Robinson, BH	2
Sherwood, WG	1
Haworth, JC	1
Perry, TL	1
Baal, MG	1
Gabreëls, FJ	1
Renier, WO	1
Hommes, FA	1
Gijsbers, TH	1
Lamers, KJ	1
Kok, JC	1
Ito, M	1

Trial	Phase	Enrollment	Study Type	Start Date	Status
Post Study Continuation of C7 for G1D[NCT02018302]		0 participants	Expanded Access		No longer available
Treatment Development of Triheptanoin for Glucose Transporter Type I Deficiency[NCT02021526]	Phase 1/Phase 2	0 participants (Actual)	Interventional	2015-12-31	Withdrawn (stopped due to NIH funding resulted in new clinical trial)
The Glucose Transporter Type I Deficiency (G1D) Registry[NCT02013583]		750 participants (Anticipated)	Observational [Patient Registry]	2013-12-31	Recruiting
Clinical Trial of Citric Acid Cycle Stimulation in Energy-deficiency States: Treatment Development for Glucose Transporter Type I Deficiency Syndrome (G1D) (NMTUT 2010B)[NCT02018315]	Phase 1	14 participants (Actual)	Interventional	2012-01-31	Completed
[information is prepared from clinicaltrials.gov, extracted Sep-2024]

Magnetic Resonance Imaging (MRI) used to calculate brain metabolic rate. Brain metabolic rate compared before oil ingestion (Baseline), 90 minutes after oil ingestion, and after 3 months of daily oil ingestion in each participant. Triheptanoin metabolism may lead to increased oxygen consumption only while the brain undergoes a reduction of ictogenesis. We hypothesize that when ictogenesis is abolished by triheptanoin or absent at baseline, triheptanoin exerts little or no effect on CMR02. (NCT02018315)
Timeframe: 3 months

Number of Participants With Reduction in Spike-wave Fraction of the EEG Recording Time

Intervention	Participants (Count of Participants)
Experimental: Triheptanoin	5

Visual analysis of EEG recording to determine the fraction of spike-range within the area of recording. (NCT02018315)
Timeframe: 1 day

Article	Year
Disorders of pyruvate metabolism. Handbook of clinical neurology, 2013, Volume: 113 Topics: Brain Diseases, Metabolic, Inborn; Humans; Pyruvate Carboxylase; Pyruvate Carboxylase Deficiency Dis	2013
Pyruvate carboxylase deficiency: mechanisms, mimics and anaplerosis. Molecular genetics and metabolism, 2010, Volume: 101, Issue:1 Topics: Animals; Carbon; Humans; Oxaloacetic Acid; Phenotype; Pyruvate Carboxylase; Pyruvate Carboxylase Def	2010
Pyruvate carboxylase deficiency: mechanisms, mimics and anaplerosis. Molecular genetics and metabolism, 2010, Volume: 101, Issue:1 Topics: Animals; Carbon; Humans; Oxaloacetic Acid; Phenotype; Pyruvate Carboxylase; Pyruvate Carboxylase Def	2010
Pyruvate carboxylase deficiency: mechanisms, mimics and anaplerosis. Molecular genetics and metabolism, 2010, Volume: 101, Issue:1 Topics: Animals; Carbon; Humans; Oxaloacetic Acid; Phenotype; Pyruvate Carboxylase; Pyruvate Carboxylase Def	2010
Pyruvate carboxylase deficiency: mechanisms, mimics and anaplerosis. Molecular genetics and metabolism, 2010, Volume: 101, Issue:1 Topics: Animals; Carbon; Humans; Oxaloacetic Acid; Phenotype; Pyruvate Carboxylase; Pyruvate Carboxylase Def	2010
Pyruvate carboxylase deficiency: mechanisms, mimics and anaplerosis. Molecular genetics and metabolism, 2010, Volume: 101, Issue:1 Topics: Animals; Carbon; Humans; Oxaloacetic Acid; Phenotype; Pyruvate Carboxylase; Pyruvate Carboxylase Def	2010
Pyruvate carboxylase deficiency: mechanisms, mimics and anaplerosis. Molecular genetics and metabolism, 2010, Volume: 101, Issue:1 Topics: Animals; Carbon; Humans; Oxaloacetic Acid; Phenotype; Pyruvate Carboxylase; Pyruvate Carboxylase Def	2010
Pyruvate carboxylase deficiency: mechanisms, mimics and anaplerosis. Molecular genetics and metabolism, 2010, Volume: 101, Issue:1 Topics: Animals; Carbon; Humans; Oxaloacetic Acid; Phenotype; Pyruvate Carboxylase; Pyruvate Carboxylase Def	2010
Pyruvate carboxylase deficiency: mechanisms, mimics and anaplerosis. Molecular genetics and metabolism, 2010, Volume: 101, Issue:1 Topics: Animals; Carbon; Humans; Oxaloacetic Acid; Phenotype; Pyruvate Carboxylase; Pyruvate Carboxylase Def	2010
Pyruvate carboxylase deficiency: mechanisms, mimics and anaplerosis. Molecular genetics and metabolism, 2010, Volume: 101, Issue:1 Topics: Animals; Carbon; Humans; Oxaloacetic Acid; Phenotype; Pyruvate Carboxylase; Pyruvate Carboxylase Def	2010
Pyruvate carboxylase deficiency: mechanisms, mimics and anaplerosis. Molecular genetics and metabolism, 2010, Volume: 101, Issue:1 Topics: Animals; Carbon; Humans; Oxaloacetic Acid; Phenotype; Pyruvate Carboxylase; Pyruvate Carboxylase Def	2010
Pyruvate carboxylase deficiency: mechanisms, mimics and anaplerosis. Molecular genetics and metabolism, 2010, Volume: 101, Issue:1 Topics: Animals; Carbon; Humans; Oxaloacetic Acid; Phenotype; Pyruvate Carboxylase; Pyruvate Carboxylase Def	2010
Pyruvate carboxylase deficiency: mechanisms, mimics and anaplerosis. Molecular genetics and metabolism, 2010, Volume: 101, Issue:1 Topics: Animals; Carbon; Humans; Oxaloacetic Acid; Phenotype; Pyruvate Carboxylase; Pyruvate Carboxylase Def	2010
Pyruvate carboxylase deficiency: mechanisms, mimics and anaplerosis. Molecular genetics and metabolism, 2010, Volume: 101, Issue:1 Topics: Animals; Carbon; Humans; Oxaloacetic Acid; Phenotype; Pyruvate Carboxylase; Pyruvate Carboxylase Def	2010
Pyruvate carboxylase deficiency: mechanisms, mimics and anaplerosis. Molecular genetics and metabolism, 2010, Volume: 101, Issue:1 Topics: Animals; Carbon; Humans; Oxaloacetic Acid; Phenotype; Pyruvate Carboxylase; Pyruvate Carboxylase Def	2010
Pyruvate carboxylase deficiency: mechanisms, mimics and anaplerosis. Molecular genetics and metabolism, 2010, Volume: 101, Issue:1 Topics: Animals; Carbon; Humans; Oxaloacetic Acid; Phenotype; Pyruvate Carboxylase; Pyruvate Carboxylase Def	2010
Pyruvate carboxylase deficiency: mechanisms, mimics and anaplerosis. Molecular genetics and metabolism, 2010, Volume: 101, Issue:1 Topics: Animals; Carbon; Humans; Oxaloacetic Acid; Phenotype; Pyruvate Carboxylase; Pyruvate Carboxylase Def	2010
Defects of pyruvate metabolism and the Krebs cycle. Journal of child neurology, 2002, Volume: 17 Suppl 3 Topics: Brain; Citric Acid Cycle; Diagnosis, Differential; Fumarate Hydratase; Humans; Magnetic Resonance Im	2002
[Mitochondrial pyruvate carboxylase]. Nihon rinsho. Japanese journal of clinical medicine, 2002, Volume: 60 Suppl 4 Topics: Animals; Citric Acid Cycle; DNA, Complementary; Gluconeogenesis; Humans; Mitochondria; Mutation, Mis	2002

Article	Year
Lactic acidaemia. Journal of inherited metabolic disease, 1984, Volume: 7 Suppl 1 Topics: Abnormalities, Multiple; Child; Humans; Lactates; Lactic Acid; Metabolism, Inborn Errors; Pyruvate C	1984
Lactic acidosis due to pyruvate carboxylase deficiency. Journal of inherited metabolic disease, 1981, Volume: 4, Issue:2 Topics: Acidosis; Humans; Infant; Lactates; Lactic Acid; Liver; Male; Phosphoenolpyruvate Carboxykinase (GTP	1981
A patient with pyruvate carboxylase deficiency in the liver: treatment with aspartic acid and thiamine. Developmental medicine and child neurology, 1981, Volume: 23, Issue:4 Topics: Aspartic Acid; Child; Female; Humans; Lactates; Lactic Acid; Liver; Psychological Tests; Pyruvate Ca	1981

pyruvic acid and Ataxia with Lactic Acidosis 2