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lactic acid and Ataxia with Lactic Acidosis 2

lactic acid has been researched along with Ataxia with Lactic Acidosis 2 in 14 studies

Lactic Acid: A normal intermediate in the fermentation (oxidation, metabolism) of sugar. The concentrated form is used internally to prevent gastrointestinal fermentation. (From Stedman, 26th ed)
2-hydroxypropanoic acid : A 2-hydroxy monocarboxylic acid that is propanoic acid in which one of the alpha-hydrogens is replaced by a hydroxy group.

Research Excerpts

ExcerptRelevanceReference
"A new patient with neonatal lactic acidosis due to pyruvate carboxylase deficiency is described."8.77[Neonatal lactic acidosis caused by severe pyruvate carboxylase deficiency]. ( Cortés Coto, MT; del Valle Martínez, J; García Aparicio, J; García Muñoz, MJ; Merinero Cortés, B; Pérez-Cerdá Silvestre, C; Sáez Pérez, E; Ugarte Pérez, M, 1988)
"Two patients with biotin-responsive multiple carboxylase deficiency, both presenting with predominant lactic acidosis, are reported."7.66Lactic acidosis in biotin-responsive multiple carboxylase deficiency caused by holocarboxylase synthetase deficiency of early and late onset. ( Brewster, T; Gravel, RA; Robinson, BH; Saunders, M; Sherwood, WG, 1982)
"A new patient with neonatal lactic acidosis due to pyruvate carboxylase deficiency is described."4.77[Neonatal lactic acidosis caused by severe pyruvate carboxylase deficiency]. ( Cortés Coto, MT; del Valle Martínez, J; García Aparicio, J; García Muñoz, MJ; Merinero Cortés, B; Pérez-Cerdá Silvestre, C; Sáez Pérez, E; Ugarte Pérez, M, 1988)
"To report the clinical history and laboratory evaluation of a patient presenting with lactic acidosis secondary to pyruvate carboxylase deficiency."3.69Prolonged survival in pyruvate carboxylase deficiency: lack of correlation with enzyme activity in cultured fibroblasts. ( Depalma, L; Nayar, R; Rifai, N; Stern, HJ, 1995)
"Two patients with biotin-responsive multiple carboxylase deficiency, both presenting with predominant lactic acidosis, are reported."3.66Lactic acidosis in biotin-responsive multiple carboxylase deficiency caused by holocarboxylase synthetase deficiency of early and late onset. ( Brewster, T; Gravel, RA; Robinson, BH; Saunders, M; Sherwood, WG, 1982)
"At age 3(1/2) years she has profound mental retardation, spasticity, and grand mal and myoclonic seizures only partially controlled by anticonvulsants."1.30Treatment of pyruvate carboxylase deficiency with high doses of citrate and aspartate. ( Ahmad, A; Artigas-Lopez, M; Kahler, SG; Kishnani, PS; Millington, DS; Pappu, AS; Steiner, R; Van Hove, JL, 1999)
"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."1.27Lactic acidaemia. ( Robinson, BH; Sherwood, WG, 1984)
"Isolated pyruvate carboxylase deficiency is reviewed in detail with a report of a recent case and a discussion of the biochemical consequences."1.27Pyruvate carboxylase deficiency. ( Alberti, KG; Bartlett, K; Dale, G; Ghneim, HK; Stirk, JH, 1984)
"Treatment with aspartic acid and thiamine over a period of seven years resulted in biochemical improvement and a stable neurological condition."1.26A 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 (14)

TimeframeStudies, this research(%)All Research%
pre-199010 (71.43)18.7374
1990's4 (28.57)18.2507
2000's0 (0.00)29.6817
2010's0 (0.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Robinson, BH3
Sherwood, WG2
Bartlett, K1
Ghneim, HK1
Stirk, JH1
Dale, G1
Alberti, KG1
Chalmers, RA1
Sweetman, L1
Haworth, JC1
Perry, TL1
Baal, MG1
Gabreëls, FJ1
Renier, WO1
Hommes, FA1
Gijsbers, TH1
Lamers, KJ1
Kok, JC1
Saunders, M1
Brewster, T1
Gravel, RA1
Stern, HJ2
Nayar, R1
Depalma, L1
Rifai, N1
Higgins, JJ1
Ide, SE1
Oghalai, JS1
Polymeropoulos, MH1
Ahmad, A1
Kahler, SG1
Kishnani, PS1
Artigas-Lopez, M1
Pappu, AS1
Steiner, R1
Millington, DS1
Van Hove, JL1
Merinero Cortés, B1
del Valle Martínez, J1
Pérez-Cerdá Silvestre, C1
García Muñoz, MJ1
Cortés Coto, MT1
García Aparicio, J1
Sáez Pérez, E1
Ugarte Pérez, M1
Krause, KH1
Bonjour, JP1
Berlit, P1
Kochen, W1
Erasmus, C1
Mienie, LJ1
Reinecke, CJ1
Wadman, SK1

Reviews

2 reviews available for lactic acid and Ataxia with Lactic Acidosis 2

ArticleYear
Lactic acidosis in paediatrics: clinical and laboratory evaluation.
    Annals of clinical biochemistry, 1994, Volume: 31 ( Pt 5)

    Topics: Acidosis, Lactic; Adult; Child; Citric Acid Cycle; Female; Gluconeogenesis; Glycogen; Humans; Infant

1994
[Neonatal lactic acidosis caused by severe pyruvate carboxylase deficiency].
    Anales espanoles de pediatria, 1988, Volume: 29, Issue:1

    Topics: Acidosis, Lactic; Humans; Infant; Infant, Newborn; Lactates; Lactic Acid; Male; Metabolism, Inborn E

1988

Other Studies

12 other studies available for lactic acid and Ataxia with Lactic Acidosis 2

ArticleYear
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
Pyruvate carboxylase deficiency.
    Journal of inherited metabolic disease, 1984, Volume: 7 Suppl 1

    Topics: Carboxy-Lyases; Citrulline; Humans; Infant, Newborn; Lactates; Lactic Acid; Male; Metabolism, Inborn

1984
Organic acids in urine of patients with congenital lactic acidoses: an aid to differential diagnosis.
    Journal of inherited metabolic disease, 1984, Volume: 7 Suppl 1

    Topics: Acidosis; Acids; Citric Acid Cycle; Cytochromes; Diagnosis, Differential; Gluconeogenesis; Humans; L

1984
Two forms of biotin-responsive multiple carboxylase deficiency.
    Journal of inherited metabolic disease, 1981, Volume: 4, Issue:2

    Topics: Acute Disease; Biotin; Carbon-Carbon Ligases; Chronic Disease; Fibroblasts; Humans; Hydroxy Acids; I

1981
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
Lactic acidosis in biotin-responsive multiple carboxylase deficiency caused by holocarboxylase synthetase deficiency of early and late onset.
    The Journal of pediatrics, 1982, Volume: 101, Issue:4

    Topics: Acidosis; Age Factors; Biotin; Carbon-Carbon Ligases; Carbon-Nitrogen Ligases; Carboxy-Lyases; Cells

1982
Prolonged survival in pyruvate carboxylase deficiency: lack of correlation with enzyme activity in cultured fibroblasts.
    Clinical biochemistry, 1995, Volume: 28, Issue:1

    Topics: Acidosis, Lactic; Adult; Alanine; Cells, Cultured; Child; Child, Preschool; Female; Fibroblasts; Hum

1995
Lack of mutations in the biotin-binding region of the pyruvate carboxylase (PC) gene in a family with partial PC deficiency.
    Clinical biochemistry, 1997, Volume: 30, Issue:1

    Topics: Binding Sites; Biotin; Child; Female; Humans; Lactic Acid; Male; Molecular Sequence Data; Mutation;

1997
Treatment of pyruvate carboxylase deficiency with high doses of citrate and aspartate.
    American journal of medical genetics, 1999, Dec-03, Volume: 87, Issue:4

    Topics: Amino Acids; Aspartic Acid; Child, Preschool; Citric Acid; Dose-Response Relationship, Drug; Female;

1999
Biotin status of epileptics.
    Annals of the New York Academy of Sciences, 1985, Volume: 447

    Topics: Adult; Anticonvulsants; Biotin; Carbon-Carbon Ligases; Carboxy-Lyases; Epilepsy; Female; Humans; Lac

1985
Organic aciduria in late-onset biotin-responsive multiple carboxylase deficiency.
    Journal of inherited metabolic disease, 1985, Volume: 8 Suppl 2

    Topics: Biotin; Carbon-Carbon Ligases; Carboxy-Lyases; Female; Humans; Infant; Lactates; Lactic Acid; Ligase

1985