Page last updated: 2024-10-20

pyruvic acid and Amyotonia Congenita

pyruvic acid has been researched along with Amyotonia Congenita in 15 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

ExcerptRelevanceReference
"We report a patient with mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes who experienced visual and auditory hallucinations."3.68Therapeutic effect of sodium dichloroacetate on visual and auditory hallucinations in a patient with MELAS. ( Hashimoto, T; Ito, M; Kuroda, Y; Naito, E; Saijo, T; Takeda, E, 1991)
"Many neuromuscular diseases are inherited or breed-associated, and DNA-based tests may already be established or may be feasible to develop after the disorder has been accurately characterized."1.36Routine and specialized laboratory testing for the diagnosis of neuromuscular diseases in dogs and cats. ( Shelton, GD, 2010)

Research

Studies (15)

TimeframeStudies, this research(%)All Research%
pre-19908 (53.33)18.7374
1990's6 (40.00)18.2507
2000's0 (0.00)29.6817
2010's1 (6.67)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Shelton, GD1
Mechler, F1
Diószeghy, P1
Csenkér, E1
Molnár, L1
Lössner, J1
Lehmann, W1
Kühn, HJ1
Ziegan, J1
Brehme, M1
Gabreëls, FJ3
Prick, MJ1
Trijbels, JM2
Renier, WO3
Jaspar, HH1
Janssen, AJ2
Slooff, JL1
Sperl, W1
Ruitenbeek, W3
van Laack, HL1
Kerkhof, CM1
Sengers, RC2
Beyenburg, S1
von Wersebe, O1
Zierz, S2
Abe, K1
Fujimura, H1
Nishikawa, Y1
Yorifuji, S1
Mezaki, T1
Hirono, N1
Nishitani, N1
Kameyama, M1
van Hellenberg Hubar, JL1
Thijssen, HO2
ter Laak, HJ1
Saijo, T1
Naito, E1
Ito, M1
Takeda, E1
Hashimoto, T1
Kuroda, Y1
Torbergsen, T1
Aasly, J1
Borud, O1
Lindal, S1
Mellgren, SI1
van Erven, PM1
Horstink, MW1
Meessen, S1
Jerusalem, F1
Harigaya, Y1
Shoji, M1
Okamoto, K1
Hirai, S1
Sato, T1
Ichiki, T1
Tanaka, M1
Nishikimi, M1
Suzuki, H1
Ozawa, T1
Kobayashi, M1
Wada, Y1
Siemes, H1

Clinical Trials (1)

Trial Overview

TrialPhaseEnrollmentStudy TypeStart DateStatus
Phase 3 Trial of Coenzyme Q10 in Mitochondrial Disease[NCT00432744]Phase 324 participants (Actual)Interventional2007-01-31Completed
[information is prepared from clinicaltrials.gov, extracted Sep-2024]

Trial Outcomes

McMaster Gross Motor Function (GMFM 88)

The McMaster Gross Motor Function is a validated scale ranging from 0 to 100 (the higher the better). Since there was the possibility of a subject becoming totally disabled our FDA peer reviewed design called for its use as follows: If the subject completed both periods, the score was calculated as the difference in scores between the end of Period 2 (at 12 months) minus that at the end of Period 1 (6 months). If a subject became totally disabled, this difference was considered as plus infinity if it occurred in period 1 (Penalizes period 1), and minus infinity if it occurred in Period 2 (Penalizes period 2). The two treatments were compared via the Wilcoxon test, and the effect size was estimated using Kendall's Tau-B. This is interpreted in a similar manner to correlation with positive values favoring COQenzyme10 and negative values favoring placebo. One of the links in this report is to the the GMFM scale and how it is scored. A link to the instrument is included. (NCT00432744)
Timeframe: Taken at 6 and 12 Months

Interventionunits on a scale (Median)
Placebo First-0.002
CoenzymeQ10 Frist-0.12

Non-parametric Hotelling T-square Bivariate Analysis of GMGF 88 and OPeds QOL.

This is a multivariate analysis of the first two outcomes: Period 2 minus Period 1 GMFM88 and Peds Quality of Life, analyzed as follows: First, to be in the analysis, subjects must contribute at least one of these endpoints. Second, if the subject became totally disabled during period 1, the difference was defined as + infinity, (highest possible evidence favoring period 2), and if the subject became totally disabled in period 2, the subject was scored as - infinity (highest possible evidence favoring period 1). Period 2 minus period 1 differences were ranked form low to high with missing values scores at the mid-rank. The Hotelling T-square was computed on these ranks and the P-value was obtained from 100,000 rerandomizations as the fraction of rerandomizations with T-sq at least as large as that observed. (NCT00432744)
Timeframe: end of 12 month minus end of 6 month difference.

Interventionparticipants (Number)
Placebo First7
CoenzymeQ10 Frist8

Pediatric Quality of Life Scale

"The Pediatric Quality of Life Scale is a validated scale ranging from 0 to 100 (the higher the better). Since there was the possibility of a subject becoming totally disabled our FDA peer reviewed design called for its use as follows: If the subject completed both periods, the score was calculated as the difference in scores between the end of Period 2 (at 12 months) minus that at the end of Period 1 (6 months). If a subject became totally disabled, this difference was considered as plus infinity if it occurred in period 1 (Penalizes period 1), and minus infinity if it occurred in Period 2 (Penalizes period 2). The two treatments were compared via the Wilcoxon test, and the effect size was estimated using Kendall's Tau-B. This is interpreted in a similar manner to correlation with positive values favoring COQenzyme10 and negative values favoring placebo. Goggle pedsQL and Mapi to browse the copyrighted manual. A link to the instrument is included." (NCT00432744)
Timeframe: At 6 and 12 Months

Interventionunits on a scale (Median)
Placebo First-1.1
CoenzymeQ10 Frist-11.9

Reviews

1 review available for pyruvic acid and Amyotonia Congenita

ArticleYear
MELAS syndrome. Report of two patients, and comparison with data of 24 patients derived from the literature.
    Neuropediatrics, 1991, Volume: 22, Issue:1

    Topics: Biopsy; Child; Child, Preschool; Electroencephalography; Electromyography; Energy Metabolism; Enzyme

1991

Other Studies

14 other studies available for pyruvic acid and Amyotonia Congenita

ArticleYear
Routine and specialized laboratory testing for the diagnosis of neuromuscular diseases in dogs and cats.
    Veterinary clinical pathology, 2010, Volume: 39, Issue:3

    Topics: Animals; Autoantibodies; Biopsy; Cat Diseases; Cats; Clinical Laboratory Techniques; Creatine Kinase

2010
Carbohydrate metabolites in the blood and CSF of patients with neuromuscular disorders.
    Journal of neurology, 1981, Volume: 226, Issue:2

    Topics: Blood Glucose; Brain Chemistry; Glucose; Humans; Lactates; NAD; Neuromuscular Diseases; Pyruvates; P

1981
[Ophthalmoplegia plus. On nosologic, biochemical, morphologic and computer tomographic aspects of the oculocraniosomatic syndrome].
    Psychiatrie, Neurologie und medizinische Psychologie. Beihefte, 1983, Volume: 29

    Topics: Adult; Biopsy; Blepharoptosis; Brain Stem; Enzymes; Humans; Lactates; Lactic Acid; Male; Muscles; Ne

1983
Defects in citric acid cycle and the electron transport chain in progressive poliodystrophy.
    Acta neurologica Scandinavica, 1984, Volume: 70, Issue:3

    Topics: Adolescent; Brain; Carbon Dioxide; Child; Child, Preschool; Citric Acid Cycle; Electron Transport; F

1984
Measurement of totally activated pyruvate dehydrogenase complex activity in human muscle: evaluation of a useful assay.
    Enzyme & protein, 1993, Volume: 47, Issue:1

    Topics: Adolescent; Adult; Biopsy; Carbon Radioisotopes; Child; Child, Preschool; Female; Humans; Infant, Ne

1993
[Delayed manifestation of mitochondrial myopathy--complex I and IV deficiency of the mitochondrial respiratory chain with progressive paresis].
    Der Nervenarzt, 1991, Volume: 62, Issue:8

    Topics: Biopsy; Cytochrome-c Oxidase Deficiency; Electromyography; Humans; Lactates; Lactic Acid; Male; Midd

1991
Marked reduction in CSF lactate and pyruvate levels after CoQ therapy in a patient with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS).
    Acta neurologica Scandinavica, 1991, Volume: 83, Issue:6

    Topics: Acidosis, Lactic; Adult; Agnosia; Cerebrovascular Disorders; Delirium; Dose-Response Relationship, D

1991
Therapeutic effect of sodium dichloroacetate on visual and auditory hallucinations in a patient with MELAS.
    Neuropediatrics, 1991, Volume: 22, Issue:3

    Topics: Acidosis, Lactic; Administration, Oral; Adult; Auditory Perception; Dichloroacetic Acid; Hallucinati

1991
Mitochondrial myopathy in Marinesco-Sjögren syndrome.
    Journal of mental deficiency research, 1991, Volume: 35 ( Pt 2)

    Topics: Adolescent; Adult; Biopsy; Cerebellum; Chromosome Aberrations; Chromosome Disorders; Exercise Test;

1991
Hypokinesia and rigidity as clinical manifestations of mitochondrial encephalomyopathy: report of three cases.
    Developmental medicine and child neurology, 1989, Volume: 31, Issue:1

    Topics: Adolescent; Atrophy; Brain; Brain Diseases, Metabolic; Child; Child Development; Follow-Up Studies;

1989
[Lactate and pyruvate blood levels in the diagnosis of mitochondrial myopathies].
    Der Nervenarzt, 1989, Volume: 60, Issue:9

    Topics: Adolescent; Adult; Aged; Exercise Test; Female; Humans; Lactates; Lactic Acid; Male; Middle Aged; Mi

1989
[A case of mitochondrial encephalomyopathy with myoclonic attacks, hyper-lactic-pyruvic acidemia, and decreased activities of complex II and cytochrome c oxidase].
    Rinsho shinkeigaku = Clinical neurology, 1988, Volume: 28, Issue:1

    Topics: Adult; Brain Diseases, Metabolic; Electron Transport Complex II; Electron Transport Complex IV; Huma

1988
Deficiency of subunits of Complex I and mitochondrial encephalomyopathy.
    Annals of neurology, 1988, Volume: 23, Issue:3

    Topics: Adolescent; Biopsy; Brain Diseases; Child; Female; Humans; Immunoenzyme Techniques; Ketoglutaric Aci

1988
[Mitochondrial myopathies and encephalomyopathies. Neuromuscular and central nervous system diseases caused by defects in mitochondrial oxidative metabolism].
    Monatsschrift Kinderheilkunde : Organ der Deutschen Gesellschaft fur Kinderheilkunde, 1985, Volume: 133, Issue:11

    Topics: Brain; Brain Diseases, Metabolic; Carnitine O-Acetyltransferase; Child; Citric Acid Cycle; Cytochrom

1985