lactic acid has been researched along with Ataxia with Lactic Acidosis in 43 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.
| Excerpt | Relevance | Reference |
|---|---|---|
| "The purpose of this research was to report results on long-term administration of dichloroacetate in 36 children with congenital lactic acidosis who participated previously in a controlled trial of this drug." | 9.13 | Evaluation of long-term treatment of children with congenital lactic acidosis with dichloroacetate. ( Carney, PR; Gilbert, LR; Neiberger, RE; Shuster, JJ; Stacpoole, PW; Theriaque, DW; Valenstein, E, 2008) |
| "Although the blood lactate-to-pyruvate (L:P) molar ratio is used to distinguish between pyruvate dehydrogenase deficiency (PDH-D) and other causes of congenital lactic acidosis (CLA), its diagnostic accuracy for differentiating between these 2 types of CLA has not been evaluated formally." | 7.74 | Diagnostic accuracy of blood lactate-to-pyruvate molar ratio in the differential diagnosis of congenital lactic acidosis. ( Allard, P; Debray, FG; Hanley, JA; Lambert, M; Mitchell, GA; Robinson, BH, 2007) |
| "We report on a patient, now 17 year old, in whom lactic acidosis was detected at the age of 7 while attempting to diagnose the causes of increasing weakness." | 7.67 | [Lactic acid acidosis with mitochondrial myopathy due to a pyruvate dehydrogenase deficiency]. ( Dworschak, E; Hammerer, I; Höpfel, I; Maurer, H; Sperl, W, 1985) |
| "1) in leukocytes and muscle tissue from a 10-year old child with persistent lactic acidosis, suffering from myasthenia and growth retardation." | 7.67 | [Pyruvate dehydrogenase deficiency in a child with persistent lactic acidosis]. ( Berger, H; Dworzak, E; Grunicke, H; Haas, H; Höpfel, I; Jarosch, E, 1985) |
| "Pyruvate dehydrogenase complex (PDHC) activity was measured in cultured fibroblasts from 12 patients with Friedreich's ataxia (FA), and in 1 patient with lactic acidosis and ataxia." | 7.66 | Pyruvate-dehydrogenase complex in ataxic patients: enzyme deficiency in ataxic encephalopathy plus lactic acidosis and normal activity in Friedreich ataxia. ( Bottacchi, E; Cardace, G; Di Donato, S; Giovanardi-Rossi, P; Moschen, G; Uziel, G, 1982) |
| "The purpose of this research was to report results on long-term administration of dichloroacetate in 36 children with congenital lactic acidosis who participated previously in a controlled trial of this drug." | 5.13 | Evaluation of long-term treatment of children with congenital lactic acidosis with dichloroacetate. ( Carney, PR; Gilbert, LR; Neiberger, RE; Shuster, JJ; Stacpoole, PW; Theriaque, DW; Valenstein, E, 2008) |
| "Three different inherited disorders are known in which thiamine may exert a beneficial effect: maple syrup urine disease (MSUD), lactic acidaemia and the syndrome of megaloblastic anaemia with sensorineural deafness and diabetes mellitus." | 4.77 | Thiamine-responsive inborn errors of metabolism. ( Duran, M; Wadman, SK, 1985) |
| "Pyruvate dehydrogenase (PDH) deficiency is a major cause of primary lactic acidosis and neurological dysfunction in infancy and early childhood." | 3.78 | Unilateral periventricular leukomalacia in association with pyruvate dehydrogenase deficiency. ( Connolly, DJ; Mordekar, SR; Sharma, R; Sharrard, MJ, 2012) |
| "Although the blood lactate-to-pyruvate (L:P) molar ratio is used to distinguish between pyruvate dehydrogenase deficiency (PDH-D) and other causes of congenital lactic acidosis (CLA), its diagnostic accuracy for differentiating between these 2 types of CLA has not been evaluated formally." | 3.74 | Diagnostic accuracy of blood lactate-to-pyruvate molar ratio in the differential diagnosis of congenital lactic acidosis. ( Allard, P; Debray, FG; Hanley, JA; Lambert, M; Mitchell, GA; Robinson, BH, 2007) |
| " The diagnosis of pyruvate dehydrogenase deficiency was made in the presenting fetus after delivery on the basis of subsequent mortality from severe lactic acidosis." | 3.71 | Prenatal diagnosis of pyruvate dehydrogenase deficiency using magnetic resonance imaging. ( Brown, SA; Mulkern, R; Norwitz, ER; Robinson, JN; Rybicki, F; Tempany, CM, 2001) |
| "We report on a patient, now 17 year old, in whom lactic acidosis was detected at the age of 7 while attempting to diagnose the causes of increasing weakness." | 3.67 | [Lactic acid acidosis with mitochondrial myopathy due to a pyruvate dehydrogenase deficiency]. ( Dworschak, E; Hammerer, I; Höpfel, I; Maurer, H; Sperl, W, 1985) |
| "1) in leukocytes and muscle tissue from a 10-year old child with persistent lactic acidosis, suffering from myasthenia and growth retardation." | 3.67 | [Pyruvate dehydrogenase deficiency in a child with persistent lactic acidosis]. ( Berger, H; Dworzak, E; Grunicke, H; Haas, H; Höpfel, I; Jarosch, E, 1985) |
| "Pyruvate dehydrogenase complex (PDHC) activity was measured in cultured fibroblasts from 12 patients with Friedreich's ataxia (FA), and in 1 patient with lactic acidosis and ataxia." | 3.66 | Pyruvate-dehydrogenase complex in ataxic patients: enzyme deficiency in ataxic encephalopathy plus lactic acidosis and normal activity in Friedreich ataxia. ( Bottacchi, E; Cardace, G; Di Donato, S; Giovanardi-Rossi, P; Moschen, G; Uziel, G, 1982) |
| "We treated a female patient with West syndrome caused by thiamine-responsive pyruvate dehydrogenase complex (PDHC) deficiency." | 2.40 | Concomitant administration of sodium dichloroacetate and thiamine in west syndrome caused by thiamine-responsive pyruvate dehydrogenase complex deficiency. ( Chen, S; Ito, M; Kuroda, Y; Maehara, M; Naito, E; Saijo, T; Yokota, I, 1999) |
| "The patient was diagnosed with pyruvate dehydrogenase complex deficiency disease (PDCDD), for which vitamin B1, coenzyme Q10, and L-carnitine were prescribed, and a ketogenic diet was recommended." | 1.48 | [Analysis of a female neonate with pyruvate dehydrogenase complex deficiency]. ( Gai, Z; Li, H; Li, X; Liu, Y; Zhang, K, 2018) |
| "Leigh syndrome is a rare, progressive encephalomyopathy that represents a spectrum of mitochondrial genetic diseases phenotypically distinct, but with neuroradiological and pathological uniform presentation." | 1.39 | Persistent hyperlactacidaemia: about a clinical case. ( Oliveira, AR; Ramos, J; Valente, R; Ventura, L, 2013) |
| "A male child with X-linked pyruvate dehydrogenase deficiency presented with severe neonatal lactic acidosis." | 1.37 | Follow-up of a child with pyruvate dehydrogenase deficiency on a less restrictive ketogenic diet. ( Boney, A; El-Gharbawy, AH; Kishnani, PS; Young, SP, 2011) |
| "PDHc deficiency was demonstrated in muscle and fibroblasts without detectable PDHA1 mutations." | 1.36 | Dihydrolipoamide dehydrogenase (DLD) deficiency in a Spanish patient with myopathic presentation due to a new mutation in the interface domain. ( Briones, P; Font, A; Pineda, M; Quintana, E; Ribes, A; Tort, F; Vilaseca, MA, 2010) |
| "Although confirmation of PDH deficiency depends on specialized biochemical analyses, neonatal MRI plays a role in evaluating the pattern and extent of brain damage, and potentially in early diagnosis and clinical decision making." | 1.35 | Neonatal pyruvate dehydrogenase deficiency due to a R302H mutation in the PDHA1 gene: MRI findings. ( Cruz, R; Leijser, LM; Magalhães, Z; Ribeiro, M; Rocha, JF; Soares-Fernandes, JP; Teixeira-Gomes, R, 2008) |
| "Both patients had PDH deficiency caused by a new mutation (G585C) in the PDHA1 gene, which is predicted to replace a highly conserved glycine at codon 195 by alanine." | 1.35 | Pyruvate dehydrogenase deficiency presenting as intermittent isolated acute ataxia. ( Debray, FG; Gagne, R; Laframboise, R; Lambert, M; MacKay, N; Maranda, B; Mitchell, GA; Robinson, BH, 2008) |
| "The major cause of PDHc deficiency is a defect in the E1alpha component." | 1.33 | A family with pyruvate dehydrogenase complex deficiency due to a novel C>T substitution at nucleotide position 407 in exon 4 of the X-linked Epsilon1alpha gene. ( Darin, N; De Meirleir, L; Eriksson, JE; Holmberg, E; Holme, E; Lissens, W; Tulinius, M; Wiklund, LM, 2005) |
| "Thiamine treatment is very effective for some patients with PDHC deficiency." | 1.31 | Thiamine-responsive pyruvate dehydrogenase deficiency in two patients caused by a point mutation (F205L and L216F) within the thiamine pyrophosphate binding region. ( Horii, Y; Ito, M; Kitamura, S; Kuroda, Y; Matsuda, J; Naito, E; Ogawa, Y; Saijo, T; Takada, E; Yokota, I, 2002) |
| "In patients with acute respiratory failure under these circumstances, intravenous ketogenic emulsion therapy is worth consideration." | 1.30 | Adult leigh syndrome: treatment with intravenous soybean oil for acute central respiratory failure. ( Ichikawa, K; Kageyama, Y; Kumagai, R; Miyabayashi, S; Yasui, T, 1999) |
| "The majority of patients with PDHC deficiency have abnormalities in the major catalytic and regulatory subunit, E1 alpha, which is encoded on the X chromosome." | 1.29 | Cerebral dysgenesis and lactic acidemia: an MRI/MRS phenotype associated with pyruvate dehydrogenase deficiency. ( Arnold, DL; Brown, GK; Brown, RM; Legris, M; Matthews, PM; Otero, LJ; Scriver, CR; Shevell, MI, 1994) |
| "We experienced a case of pyruvate dehydrogenase deficiency observed by proton magnetic resonance spectroscopy (1H MRS)." | 1.29 | Therapeutic efficacy of a case of pyruvate dehydrogenase complex deficiency monitored by localized proton magnetic resonance spectroscopy. ( Arai, K; Harada, M; Hashimoto, T; Miyoshi, H; Nishitani, H; Tanouchi, M, 1996) |
| "A ten-month-old infant with pyruvate dehydrogenase deficiency received anaesthesia on two occasions, once for a laparotomy and once for a tracheostomy." | 1.27 | Anaesthesia and pyruvate dehydrogenase deficiency. ( Dierdorf, SF; McNiece, WL, 1983) |
| "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) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 11 (25.58) | 18.7374 |
| 1990's | 14 (32.56) | 18.2507 |
| 2000's | 10 (23.26) | 29.6817 |
| 2010's | 6 (13.95) | 24.3611 |
| 2020's | 2 (4.65) | 2.80 |
| Authors | Studies |
|---|---|
| Croci, C | 1 |
| Cataldi, M | 1 |
| Baratto, S | 1 |
| Bruno, C | 1 |
| Trucco, F | 1 |
| Doccini, S | 1 |
| Romano, A | 1 |
| Nesti, C | 1 |
| Santorelli, FM | 1 |
| Fiorillo, C | 1 |
| de Gusmao, CM | 1 |
| Peixoto de Barcelos, I | 1 |
| Pinto, ALR | 1 |
| Silveira-Moriyama, L | 1 |
| Zhang, K | 1 |
| Li, H | 1 |
| Li, X | 1 |
| Liu, Y | 1 |
| Gai, Z | 1 |
| Oliveira, AR | 1 |
| Valente, R | 1 |
| Ramos, J | 1 |
| Ventura, L | 1 |
| Quintana, E | 1 |
| Pineda, M | 2 |
| Font, A | 1 |
| Vilaseca, MA | 2 |
| Tort, F | 1 |
| Ribes, A | 2 |
| Briones, P | 3 |
| El-Gharbawy, AH | 1 |
| Boney, A | 1 |
| Young, SP | 1 |
| Kishnani, PS | 1 |
| Sharma, R | 1 |
| Sharrard, MJ | 1 |
| Connolly, DJ | 1 |
| Mordekar, SR | 1 |
| Van den Bossche, D | 1 |
| Schiettecatte, J | 1 |
| Vekens, E | 1 |
| De Smet, D | 1 |
| Gorus, FK | 1 |
| Martens, GA | 1 |
| Naito, E | 8 |
| Ito, M | 6 |
| Yokota, I | 5 |
| Saijo, T | 3 |
| Matsuda, J | 3 |
| Ogawa, Y | 1 |
| Kitamura, S | 1 |
| Takada, E | 1 |
| Horii, Y | 1 |
| Kuroda, Y | 7 |
| Abramson, CJ | 1 |
| Platt, SR | 1 |
| Shelton, GD | 1 |
| Tulinius, M | 1 |
| Darin, N | 1 |
| Wiklund, LM | 1 |
| Holmberg, E | 1 |
| Eriksson, JE | 1 |
| Lissens, W | 1 |
| De Meirleir, L | 2 |
| Holme, E | 1 |
| Debray, FG | 2 |
| Mitchell, GA | 2 |
| Allard, P | 1 |
| Robinson, BH | 4 |
| Hanley, JA | 1 |
| Lambert, M | 2 |
| Soares-Fernandes, JP | 1 |
| Teixeira-Gomes, R | 1 |
| Cruz, R | 1 |
| Ribeiro, M | 1 |
| Magalhães, Z | 1 |
| Rocha, JF | 1 |
| Leijser, LM | 1 |
| Stacpoole, PW | 2 |
| Gilbert, LR | 1 |
| Neiberger, RE | 2 |
| Carney, PR | 1 |
| Valenstein, E | 1 |
| Theriaque, DW | 2 |
| Shuster, JJ | 1 |
| Gagne, R | 1 |
| Maranda, B | 1 |
| Laframboise, R | 1 |
| MacKay, N | 1 |
| Dierdorf, SF | 1 |
| McNiece, WL | 1 |
| Sherwood, WG | 1 |
| Chalmers, RA | 1 |
| Johnston, K | 1 |
| Newth, CJ | 1 |
| Sheu, KF | 1 |
| Patel, MS | 2 |
| Heldt, GP | 1 |
| Schmidt, KA | 1 |
| Packman, S | 1 |
| Uziel, G | 1 |
| Bottacchi, E | 1 |
| Moschen, G | 1 |
| Giovanardi-Rossi, P | 1 |
| Cardace, G | 1 |
| Di Donato, S | 1 |
| Takeda, E | 3 |
| Yoshijima, S | 1 |
| Shevell, MI | 1 |
| Matthews, PM | 1 |
| Scriver, CR | 1 |
| Brown, RM | 1 |
| Otero, LJ | 1 |
| Legris, M | 1 |
| Brown, GK | 1 |
| Arnold, DL | 1 |
| Kruse, B | 1 |
| Hanefeld, F | 1 |
| Holzbach, U | 1 |
| Wilichowski, E | 1 |
| Christen, HJ | 1 |
| Merboldt, KD | 1 |
| Hänicke, W | 1 |
| Frahm, J | 1 |
| Hirose, M | 1 |
| Sejima, H | 1 |
| Aiba, H | 1 |
| Hojo, H | 1 |
| Harada, M | 1 |
| Tanouchi, M | 1 |
| Arai, K | 1 |
| Nishitani, H | 1 |
| Miyoshi, H | 1 |
| Hashimoto, T | 1 |
| Eirís, J | 1 |
| Alvarez-Moreno, A | 1 |
| Alonso-Alonso, C | 1 |
| Castro-Gago, M | 1 |
| Artuch, R | 1 |
| Colomer, J | 1 |
| Vernet, A | 1 |
| Campistol, J | 1 |
| Rubio-Gozalbo, ME | 1 |
| Heerschap, A | 1 |
| Trijbels, JM | 1 |
| Thijssen, HO | 1 |
| Smeitink, JA | 1 |
| Kumagai, R | 1 |
| Ichikawa, K | 1 |
| Yasui, T | 1 |
| Kageyama, Y | 1 |
| Miyabayashi, S | 1 |
| Chen, S | 1 |
| Maehara, M | 1 |
| Di Rocco, M | 1 |
| Lamba, LD | 1 |
| Minniti, G | 1 |
| Caruso, U | 1 |
| Robinson, JN | 1 |
| Norwitz, ER | 1 |
| Mulkern, R | 1 |
| Brown, SA | 1 |
| Rybicki, F | 1 |
| Tempany, CM | 1 |
| George, JC | 1 |
| Perkins, LA | 1 |
| Hutson, AD | 1 |
| Huq, AH | 1 |
| Stansbie, D | 1 |
| Wallace, SJ | 1 |
| Marsac, C | 1 |
| Kerr, DS | 1 |
| Berry, SA | 1 |
| Lusk, MM | 1 |
| Ho, L | 1 |
| Sperl, W | 1 |
| Maurer, H | 1 |
| Dworschak, E | 1 |
| Höpfel, I | 2 |
| Hammerer, I | 1 |
| Dworzak, E | 1 |
| Grunicke, H | 1 |
| Berger, H | 1 |
| Jarosch, E | 1 |
| Haas, H | 1 |
| Duran, M | 1 |
| Wadman, SK | 1 |
| Siemes, H | 1 |
| Trial | Phase | Enrollment | Study Type | Start Date | Status | ||
|---|---|---|---|---|---|---|---|
| Phase 3 Trial of Dichloroacetate in Pyruvate Dehydrogenase Complex Deficiency:[NCT02616484] | Phase 3 | 34 participants (Actual) | Interventional | 2020-07-14 | Active, not recruiting | ||
| Phase 3 Trial of Coenzyme Q10 in Mitochondrial Disease[NCT00432744] | Phase 3 | 24 participants (Actual) | Interventional | 2007-01-31 | Completed | ||
| Pharmacotoxicology of Trichloroethylene Metabolites: Short-term Effect of DCA on in Vivo Tyrosine Catabolism and MAAI Expression[NCT00865514] | 2 participants (Actual) | Interventional | 2011-08-31 | Terminated (stopped due to Difficulty in obtaining the solution from the compounding pharmacies caused a two year delay in start-up; the funding ended prior to study completion.) | |||
| [information is prepared from clinicaltrials.gov, extracted Sep-2024] | |||||||
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
| Intervention | units on a scale (Median) |
|---|---|
| Placebo First | -0.002 |
| CoenzymeQ10 Frist | -0.12 |
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.
| Intervention | participants (Number) |
|---|---|
| Placebo First | 7 |
| CoenzymeQ10 Frist | 8 |
"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
| Intervention | units on a scale (Median) |
|---|---|
| Placebo First | -1.1 |
| CoenzymeQ10 Frist | -11.9 |
5 reviews available for lactic acid and Ataxia with Lactic Acidosis
| Article | Year |
|---|---|
Lacticacidemia.
Topics: Adenosine Triphosphatases; Amino Acid Sequence; Animals; Binding Sites; Carrier Proteins; Cytochrome | 1993 |
[Vitamin B1 dependency].
Topics: 3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide); Acyltransferases; Anemia, Megaloblastic; Diagnosi | 1998 |
Concomitant administration of sodium dichloroacetate and thiamine in west syndrome caused by thiamine-responsive pyruvate dehydrogenase complex deficiency.
Topics: Amino Acid Substitution; Dichloroacetic Acid; DNA Mutational Analysis; Drug Therapy, Combination; Fe | 1999 |
Disorders of the pyruvate dehydrogenase complex.
Topics: Acetyl Coenzyme A; Acetyltransferases; Acidosis; Brain; Carbon Dioxide; Child; Child, Preschool; Coe | 1986 |
Thiamine-responsive inborn errors of metabolism.
Topics: 3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide); Anemia, Macrocytic; Anemia, Megaloblastic; Child; | 1985 |
1 trial available for lactic acid and Ataxia with Lactic Acidosis
| Article | Year |
|---|---|
Evaluation of long-term treatment of children with congenital lactic acidosis with dichloroacetate.
Topics: Acidosis, Lactic; Administration, Oral; Adolescent; Adult; Child; Child, Preschool; Dichloroacetic A | 2008 |
37 other studies available for lactic acid and Ataxia with Lactic Acidosis
| Article | Year |
|---|---|
Recurrent Sensory-Motor Neuropathy Mimicking CIDP as Predominant Presentation of PDH Deficiency.
Topics: Humans; Lactic Acid; Mutation; Phenotype; Polyradiculoneuropathy, Chronic Inflammatory Demyelinating | 2023 |
Pearls & Oy-sters: Paroxysmal Exercise-Induced Dyskinesias Due to Pyruvate Dehydrogenase Deficiency.
Topics: Child, Preschool; Chorea; Dystonia; Humans; Lactic Acid; Male; Pyruvate Dehydrogenase Complex Defici | 2023 |
[Analysis of a female neonate with pyruvate dehydrogenase complex deficiency].
Topics: Brain; Female; Humans; Infant, Newborn; Lactic Acid; Magnetic Resonance Imaging; Mutation, Missense; | 2018 |
Persistent hyperlactacidaemia: about a clinical case.
Topics: Brain; Humans; Infant; Lactic Acid; Leigh Disease; Male; Pyruvate Dehydrogenase Complex Deficiency D | 2013 |
Dihydrolipoamide dehydrogenase (DLD) deficiency in a Spanish patient with myopathic presentation due to a new mutation in the interface domain.
Topics: Acidosis, Lactic; Adult; Amino Acid Sequence; Base Sequence; Biomarkers; Blepharoptosis; Cells, Cult | 2010 |
Follow-up of a child with pyruvate dehydrogenase deficiency on a less restrictive ketogenic diet.
Topics: Child, Preschool; Diet, Ketogenic; Follow-Up Studies; Humans; Hydroxybutyrates; Lactic Acid; Male; P | 2011 |
Unilateral periventricular leukomalacia in association with pyruvate dehydrogenase deficiency.
Topics: Acidosis, Lactic; Alleles; Cerebral Ventricles; Developmental Disabilities; Diagnosis, Differential; | 2012 |
Enzymatic pyruvate measurement by Cobas 6000 open channel assay.
Topics: Blood Chemical Analysis; Calibration; Humans; Lactic Acid; Limit of Detection; Point-of-Care Systems | 2012 |
Thiamine-responsive pyruvate dehydrogenase deficiency in two patients caused by a point mutation (F205L and L216F) within the thiamine pyrophosphate binding region.
Topics: Binding Sites; Cells, Cultured; Child; Exons; Humans; Infant; Lactic Acid; Lymphocytes; Male; Point | 2002 |
Pyruvate dehydrogenase deficiency in a Sussex spaniel.
Topics: Animals; Diagnosis, Differential; Dog Diseases; Dogs; Female; Lactic Acid; Pedigree; Physical Condit | 2004 |
A family with pyruvate dehydrogenase complex deficiency due to a novel C>T substitution at nucleotide position 407 in exon 4 of the X-linked Epsilon1alpha gene.
Topics: Amino Acid Substitution; Brain; Carnitine; Child, Preschool; Exons; Humans; Infant; Lactic Acid; Lei | 2005 |
Diagnostic accuracy of blood lactate-to-pyruvate molar ratio in the differential diagnosis of congenital lactic acidosis.
Topics: Acidosis, Lactic; Child; Diagnosis, Differential; Female; Hospitals, Pediatric; Humans; Lactic Acid; | 2007 |
Neonatal pyruvate dehydrogenase deficiency due to a R302H mutation in the PDHA1 gene: MRI findings.
Topics: Brain; Diagnosis, Differential; Diffusion Magnetic Resonance Imaging; Humans; Infant, Newborn; Lacti | 2008 |
Pyruvate dehydrogenase deficiency presenting as intermittent isolated acute ataxia.
Topics: Ataxia; Basal Ganglia Diseases; Binding Sites; Brain Diseases, Metabolic; Child; Child, Preschool; D | 2008 |
Anaesthesia and pyruvate dehydrogenase deficiency.
Topics: Acidosis; Anesthesia; Anesthetics; Female; Humans; Infant; Lactates; Lactic Acid; Metabolism, Inborn | 1983 |
Lactic acidaemia.
Topics: Abnormalities, Multiple; Child; Humans; Lactates; Lactic Acid; Metabolism, Inborn Errors; Pyruvate C | 1984 |
Organic acids in urine of patients with congenital lactic acidoses: an aid to differential diagnosis.
Topics: Acidosis; Acids; Citric Acid Cycle; Cytochromes; Diagnosis, Differential; Gluconeogenesis; Humans; L | 1984 |
Central hypoventilation syndrome in pyruvate dehydrogenase complex deficiency.
Topics: Almitrine; Cells, Cultured; Chemoreceptor Cells; Child; Decarboxylation; Doxapram; Fibroblasts; Huma | 1984 |
Pyruvate-dehydrogenase complex in ataxic patients: enzyme deficiency in ataxic encephalopathy plus lactic acidosis and normal activity in Friedreich ataxia.
Topics: Acidosis; Adolescent; Ataxia; Brain Diseases; Fibroblasts; Friedreich Ataxia; Humans; Lactates; Lact | 1982 |
Molecular analysis of abnormal pyruvate dehydrogenase in a patient with thiamine-responsive congenital lactic acidemia.
Topics: Acidosis, Lactic; Base Sequence; Decarboxylation; Humans; Immunoblotting; Infant, Newborn; Lactates; | 1994 |
Cerebral dysgenesis and lactic acidemia: an MRI/MRS phenotype associated with pyruvate dehydrogenase deficiency.
Topics: Acidosis, Lactic; Agenesis of Corpus Callosum; Brain; Brain Damage, Chronic; Brain Diseases, Metabol | 1994 |
Proton spectroscopy in patients with Leigh's disease and mitochondrial enzyme deficiency.
Topics: Brain Chemistry; Humans; Infant; Lactates; Lactic Acid; Leigh Disease; Magnetic Resonance Spectrosco | 1994 |
DNA diagnosis of pyruvate dehydrogenase deficiency in female patients with congenital lactic acidaemia.
Topics: Base Sequence; Cells, Cultured; DNA; DNA Mutational Analysis; DNA Primers; Dosage Compensation, Gene | 1995 |
Molecular genetic analysis of a female patient with pyruvate dehydrogenase deficiency: detection of a new mutation and differential expression of mutant gene product in cultured cells.
Topics: Alleles; Base Sequence; Cell Line, Transformed; Cells, Cultured; Dosage Compensation, Genetic; Femal | 1995 |
Therapeutic efficacy of a case of pyruvate dehydrogenase complex deficiency monitored by localized proton magnetic resonance spectroscopy.
Topics: Brain; Brain Chemistry; Dichloroacetic Acid; Humans; Infant; Lactates; Lactic Acid; Magnetic Resonan | 1996 |
[Pyruvate dehydrogenase deficiency and cerebral malformations].
Topics: Brain; Child, Preschool; Exons; Female; Fibroblasts; Humans; Infant; Lactic Acid; Magnetic Resonance | 1996 |
[Respiratory chain and pyruvate metabolism deficiencies in pediatric patients: evaluation of biochemical tests for selective screening].
Topics: Alanine; Amino Acids; Carnitine; Child; Child, Preschool; Chromatography, Gas; Citric Acid Cycle; DN | 1998 |
Proton MR spectroscopy in a child with pyruvate dehydrogenase complex deficiency.
Topics: Alanine; Aspartic Acid; Binding Sites; Brain; Choline; Corpus Striatum; Creatine; Humans; Infant; La | 1999 |
Adult leigh syndrome: treatment with intravenous soybean oil for acute central respiratory failure.
Topics: Acute Disease; Adult; Diet; Fat Emulsions, Intravenous; Female; Humans; Injections, Intravenous; Ket | 1999 |
Outcome of thiamine treatment in a child with Leigh disease due to thiamine-responsive pyruvate dehydrogenase deficiency.
Topics: Child; Diagnosis, Differential; Dose-Response Relationship, Drug; Fibroblasts; Follow-Up Studies; Hu | 2000 |
Prenatal diagnosis of pyruvate dehydrogenase deficiency using magnetic resonance imaging.
Topics: Acidosis, Lactic; Adult; Cerebral Cortex; Cerebral Ventricles; Cerebrospinal Fluid; Diseases in Twin | 2001 |
Renal manifestations of congenital lactic acidosis.
Topics: Acidosis, Lactic; Adolescent; Adult; Bicarbonates; Blood Urea Nitrogen; Calcium; Child; Child, Presc | 2002 |
Demonstration of an unstable variant of pyruvate dehydrogenase protein (E1) in cultured fibroblasts from a patient with congenital lactic acidemia.
Topics: Cells, Cultured; Child; Female; Fibroblasts; Genetic Variation; Humans; Lactates; Lactic Acid; Mitoc | 1991 |
A deficiency of both subunits of pyruvate dehydrogenase which is not expressed in fibroblasts.
Topics: Child, Preschool; Electrophoresis, Polyacrylamide Gel; Fibroblasts; Humans; Immunoassay; Infant; Kid | 1988 |
[Lactic acid acidosis with mitochondrial myopathy due to a pyruvate dehydrogenase deficiency].
Topics: Acidosis; Child; Humans; Lactates; Lactic Acid; Male; Mitochondria, Muscle; Muscular Diseases; Pyruv | 1985 |
[Pyruvate dehydrogenase deficiency in a child with persistent lactic acidosis].
Topics: Acidosis; Child; Humans; Lactates; Lactic Acid; Leukocytes; Muscles; Pyruvate Dehydrogenase Complex | 1985 |
[Mitochondrial myopathies and encephalomyopathies. Neuromuscular and central nervous system diseases caused by defects in mitochondrial oxidative metabolism].
Topics: Brain; Brain Diseases, Metabolic; Carnitine O-Acetyltransferase; Child; Citric Acid Cycle; Cytochrom | 1985 |