thiamine has been researched along with Pyruvate Dehydrogenase Complex Deficiency Disease in 35 studies
thiamine(1+) : A primary alcohol that is 1,3-thiazol-3-ium substituted by (4-amino-2-methylpyrimidin-5-yl)methyl, methyl and 2-hydroxyethyl groups at positions 3, 4 and 5, respectively.
Pyruvate Dehydrogenase Complex Deficiency Disease: An inherited metabolic disorder caused by deficient enzyme activity in the PYRUVATE DEHYDROGENASE COMPLEX, resulting in deficiency of acetyl CoA and reduced synthesis of acetylcholine. Two clinical forms are recognized: neonatal and juvenile. The neonatal form is a relatively common cause of lactic acidosis in the first weeks of life and may also feature an erythematous rash. The juvenile form presents with lactic acidosis, alopecia, intermittent ATAXIA; SEIZURES; and an erythematous rash. (From J Inherit Metab Dis 1996;19(4):452-62) Autosomal recessive and X-linked forms are caused by mutations in the genes for the three different enzyme components of this multisubunit pyruvate dehydrogenase complex. One of the mutations at Xp22.2-p22.1 in the gene for the E1 alpha component of the complex leads to LEIGH DISEASE.
| Excerpt | Relevance | Reference |
|---|---|---|
| "Cardiovascular beriberi is a syndrome caused by thiamine deficiency and characterized by systemic vasodilatation, heart failure and lactic acidosis." | 7.69 | Hypothesis on cellular ATP depletion and adenosine release as causes of heart failure and vasodilatation in cardiovascular beriberi. ( Bakker, SJ; Leunissen, KM, 1995) |
| "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) |
| "Cardiovascular beriberi is a syndrome caused by thiamine deficiency and characterized by systemic vasodilatation, heart failure and lactic acidosis." | 3.69 | Hypothesis on cellular ATP depletion and adenosine release as causes of heart failure and vasodilatation in cardiovascular beriberi. ( Bakker, SJ; Leunissen, KM, 1995) |
| "Pyruvate dehydrogenase deficiency is a rare mitochondrial disease leading to energy deficiency in the cells." | 2.61 | Pyruvate dehydrogenase deficiency. ( Bliksrud, YT; Pedersen, S; Ramm-Pettersen, A; Selmer, KK, 2019) |
| "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) |
| "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) |
| "Thiamine treatment resulted in reduction of the patient's serum lactate concentration and dramatic clinical improvement." | 1.33 | A Korean female patient with thiamine-responsive pyruvate dehydrogenase complex deficiency due to a novel point mutation (Y161C)in the PDHA1 gene. ( Ahn, MS; Hwang, JS; Kim, SH; Kim, SJ; Lee, EH; Ryu, KH, 2006) |
| "Thiamine treatment was effective for some patients with PDHC deficiency." | 1.31 | Diagnosis and molecular analysis of three male patients with thiamine-responsive pyruvate dehydrogenase complex deficiency. ( Ito, M; Kuroda, Y; Naito, E; Ogawa, Y; Saijo, T; Yokota, I, 2002) |
| "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) |
| "Pyruvate dehydrogenase deficiency is one of the most common causes of encephalopathy associated with lactic acidosis and is known to account for congenital lactic acidosis, recurrent ataxia, and infantile Leigh syndrome." | 1.29 | Leigh syndrome: pyruvate dehydrogenase defect. A case with peripheral neuropathy. ( Benelli, C; Chabrol, B; Gire, C; Mancini, J; Munnich, A, 1994) |
| "Thiamine treatment (1." | 1.26 | Thiamine dependency in a patient with congenital lacticacidaemia due to pyruvate dehydrogenase deficiency. ( Baumgartner, R; Schweizer, K; Wick, H, 1977) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 4 (11.43) | 18.7374 |
| 1990's | 17 (48.57) | 18.2507 |
| 2000's | 7 (20.00) | 29.6817 |
| 2010's | 6 (17.14) | 24.3611 |
| 2020's | 1 (2.86) | 2.80 |
| Authors | Studies |
|---|---|
| Hayano, S | 1 |
| Amamoto, M | 1 |
| Naito, E | 10 |
| Pedersen, S | 1 |
| Bliksrud, YT | 1 |
| Selmer, KK | 1 |
| Ramm-Pettersen, A | 1 |
| Brown, G | 1 |
| Castiglioni, C | 1 |
| Verrigni, D | 1 |
| Okuma, C | 1 |
| Diaz, A | 1 |
| Alvarez, K | 1 |
| Rizza, T | 1 |
| Carrozzo, R | 1 |
| Bertini, E | 1 |
| Miranda, M | 1 |
| Sedel, F | 1 |
| Challe, G | 1 |
| Mayer, JM | 1 |
| Boutron, A | 1 |
| Fontaine, B | 1 |
| Saudubray, JM | 2 |
| Brivet, M | 2 |
| Barnerias, C | 1 |
| Touati, G | 1 |
| De Lonlay, P | 1 |
| Dulac, O | 1 |
| Ponsot, G | 2 |
| Marsac, C | 1 |
| Desguerre, I | 1 |
| Quintana, E | 1 |
| Pineda, M | 1 |
| Font, A | 1 |
| Vilaseca, MA | 1 |
| Tort, F | 1 |
| Ribes, A | 1 |
| Briones, P | 1 |
| Giribaldi, G | 1 |
| Doria-Lamba, L | 1 |
| Biancheri, R | 1 |
| Severino, M | 1 |
| Rossi, A | 1 |
| Santorelli, FM | 1 |
| Schiaffino, C | 1 |
| Caruso, U | 2 |
| Piemonte, F | 1 |
| Bruno, C | 1 |
| Ito, M | 6 |
| Yokota, I | 6 |
| Saijo, T | 5 |
| Ogawa, Y | 2 |
| Kuroda, Y | 8 |
| Matsuda, J | 3 |
| Kitamura, S | 1 |
| Takada, E | 1 |
| Horii, Y | 1 |
| Lee, EH | 1 |
| Ahn, MS | 1 |
| Hwang, JS | 1 |
| Ryu, KH | 1 |
| Kim, SJ | 1 |
| Kim, SH | 1 |
| Milojevic, I | 1 |
| Simic, D | 1 |
| Kodama, S | 1 |
| Yagi, R | 1 |
| Ninomiya, M | 1 |
| Goji, K | 1 |
| Takahashi, T | 1 |
| Morishita, Y | 1 |
| Matsuo, T | 1 |
| Takeda, E | 1 |
| Yoshijima, S | 1 |
| Chabrol, B | 1 |
| Mancini, J | 1 |
| Benelli, C | 2 |
| Gire, C | 1 |
| Munnich, A | 1 |
| Bonne, G | 1 |
| De Meirleir, L | 2 |
| Lissens, W | 1 |
| Chaussain, M | 1 |
| Diry, M | 1 |
| Clot, JP | 1 |
| Geoffroy, V | 1 |
| Leroux, JP | 1 |
| Bakker, SJ | 1 |
| Leunissen, KM | 1 |
| Pastoris, O | 1 |
| Savasta, S | 1 |
| Foppa, P | 1 |
| Catapano, M | 1 |
| Dossena, M | 1 |
| Robinson, BH | 2 |
| MacKay, N | 1 |
| Chun, K | 1 |
| Ling, M | 1 |
| Takusa, Y | 1 |
| Hanaoka, S | 1 |
| Kinoshita, H | 1 |
| Sakuragawa, N | 1 |
| Tada, H | 1 |
| Nonaka, I | 1 |
| Osaka, H | 1 |
| Kimura, S | 1 |
| Rubio-Gozalbo, ME | 1 |
| Heerschap, A | 1 |
| Trijbels, JM | 1 |
| Thijssen, HO | 1 |
| Smeitink, JA | 1 |
| Narisawa, K | 2 |
| Chen, S | 1 |
| Maehara, M | 1 |
| Di Rocco, M | 1 |
| Lamba, LD | 1 |
| Minniti, G | 1 |
| Scharfe, C | 1 |
| Hauschild, M | 1 |
| Klopstock, T | 1 |
| Janssen, AJ | 1 |
| Heidemann, PH | 1 |
| Meitinger, T | 1 |
| Jaksch, M | 1 |
| Taylor, J | 1 |
| Sherwood, WG | 1 |
| Wick, H | 1 |
| Schweizer, K | 1 |
| Baumgartner, R | 1 |
| Endo, H | 1 |
| Miyabayashi, S | 1 |
| Tada, K | 1 |
| Scholte, HR | 1 |
| Busch, HF | 1 |
| Luyt-Houwen, IE | 1 |
| Sacks, W | 1 |
| Esser, AH | 1 |
| Sacks, S | 1 |
| Duran, M | 1 |
| Wadman, SK | 1 |
8 reviews available for thiamine and Pyruvate Dehydrogenase Complex Deficiency Disease
| Article | Year |
|---|---|
Pyruvate dehydrogenase deficiency.
Topics: Diagnosis, Differential; Dichloroacetic Acid; Diet, Ketogenic; Humans; Pyruvate Dehydrogenase Comple | 2019 |
Defects of thiamine transport and metabolism.
Topics: Animals; Biological Transport; Humans; Maple Syrup Urine Disease; Membrane Transport Proteins; Pyruv | 2014 |
Pyruvate dehydrogenase deficiency presenting as isolated paroxysmal exercise induced dystonia successfully reversed with thiamine supplementation. Case report and mini-review.
Topics: Brain; Dietary Supplements; Dystonic Disorders; Female; Humans; Magnetic Resonance Imaging; Pyruvate | 2015 |
Disorders of pyruvate carboxylase and the pyruvate dehydrogenase complex.
Topics: Amino Acid Sequence; Female; Humans; Male; Molecular Sequence Data; Mutation; Pyruvate Carboxylase; | 1996 |
[Vitamin B1 dependency].
Topics: 3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide); Acyltransferases; Anemia, Megaloblastic; Diagnosi | 1998 |
[Molecular basis of vitamin-responsive inborn errors of metabolism].
Topics: Carbon-Nitrogen Ligases; Homocystinuria; Humans; Maple Syrup Urine Disease; Mutation; Pyridoxine; Py | 1999 |
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 |
Thiamine-responsive inborn errors of metabolism.
Topics: 3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide); Anemia, Macrocytic; Anemia, Megaloblastic; Child; | 1985 |
27 other studies available for thiamine and Pyruvate Dehydrogenase Complex Deficiency Disease
| Article | Year |
|---|---|
Thiamine-responsive pyruvate dehydrogenase complex deficiency presenting as recurrent muscle weakness: Identification of a novel mutation (p.T111I) in the PDHA1 gene.
Topics: Humans; Muscle Weakness; Mutation; Pyruvate Dehydrogenase Complex Deficiency Disease; Thiamine | 2023 |
Thiamine responsive pyruvate dehydrogenase deficiency in an adult with peripheral neuropathy and optic neuropathy.
Topics: Adult; Age Factors; Humans; Male; Optic Nerve Diseases; Peripheral Nervous System Diseases; Pyruvate | 2008 |
Pyruvate dehydrogenase complex deficiency: four neurological phenotypes with differing pathogenesis.
Topics: Adolescent; Brain; Female; Genetic Predisposition to Disease; Humans; Longitudinal Studies; Magnetic | 2010 |
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 |
Intermittent-relapsing pyruvate dehydrogenase complex deficiency: a case with clinical, biochemical, and neuroradiological reversibility.
Topics: Alleles; Brain; Child; DNA Mutational Analysis; Economics; Hemizygote; Humans; Image Processing, Com | 2012 |
Diagnosis and molecular analysis of three male patients with thiamine-responsive pyruvate dehydrogenase complex deficiency.
Topics: Acidosis, Lactic; Cells, Cultured; Child; Child, Preschool; DNA Mutational Analysis; Fibroblasts; Hu | 2002 |
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 |
A Korean female patient with thiamine-responsive pyruvate dehydrogenase complex deficiency due to a novel point mutation (Y161C)in the PDHA1 gene.
Topics: Cells, Cultured; Female; Humans; Infant, Newborn; Point Mutation; Pyruvate Dehydrogenase (Lipoamide) | 2006 |
Anesthesia in pyruvate dehydrogenase deficiency.
Topics: Anesthesia, General; Child, Preschool; Female; Humans; Paralysis; Pyruvate Dehydrogenase Complex Def | 2008 |
The effect of a high fat diet on pyruvate decarboxylase deficiency without central nervous system involvement.
Topics: Carboxy-Lyases; Child; Dietary Fats; Electroencephalography; Fatigue; Fibroblasts; Humans; Male; Phy | 1983 |
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 |
Leigh syndrome: pyruvate dehydrogenase defect. A case with peripheral neuropathy.
Topics: Brain; Chromatography, Gas; Electroencephalography; Humans; Infant; Leigh Disease; Male; Pyruvate De | 1994 |
E1 pyruvate dehydrogenase deficiency in a child with motor neuropathy.
Topics: Base Sequence; Carnitine; Child; DNA; DNA Mutational Analysis; Drug Therapy, Combination; Humans; Ly | 1993 |
Hypothesis on cellular ATP depletion and adenosine release as causes of heart failure and vasodilatation in cardiovascular beriberi.
Topics: Acetyl Coenzyme A; Acidosis, Lactic; Adenosine; Adenosine Triphosphate; Beriberi; Ethanol; Heart Fai | 1995 |
Pyruvate dehydrogenase deficiency in a child responsive to thiamine treatment.
Topics: Biopsy; Child, Preschool; Humans; Male; Muscle, Skeletal; Pyruvate Dehydrogenase Complex Deficiency | 1996 |
[Magnetic resonance imaging in thiamine responsive pyruvate dehydrogenase complex deficiency].
Topics: Acidosis, Lactic; Brain; Child, Preschool; Female; Humans; Intellectual Disability; Magnetic Resonan | 1996 |
Recurrent muscle weakness and ataxia in thiamine-responsive pyruvate dehydrogenase complex deficiency.
Topics: Child, Preschool; Humans; Lymphocytes; Male; Muscle Weakness; Muscle, Skeletal; Pyruvate Dehydrogena | 1997 |
Biochemical and molecular analysis of an X-linked case of Leigh syndrome associated with thiamin-responsive pyruvate dehydrogenase deficiency.
Topics: DNA; Genetic Linkage; Humans; Immunoblotting; Infant; Leigh Disease; Male; Mutation; Polymerase Chai | 1997 |
Thiamine-responsive lactic acidaemia: role of pyruvate dehydrogenase complex.
Topics: Acidosis, Lactic; Child, Preschool; Female; Fibroblasts; Humans; Infant; Lymphocytes; Male; Muscle, | 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 |
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 |
A novel mutation in the thiamine responsive megaloblastic anaemia gene SLC19A2 in a patient with deficiency of respiratory chain complex I.
Topics: Adolescent; Anemia, Megaloblastic; Base Sequence; Carrier Proteins; Consanguinity; DNA; DNA Mutation | 2000 |
Deficiency of dihydrolipoyl dehydrogenase (a component of the pyruvate and alpha-ketoglutarate dehydrogenase complexes): a cause of congenital chronic lactic acidosis in infancy.
Topics: Acidosis; Dihydrolipoamide Dehydrogenase; Fursultiamin; Humans; Infant; Ketoglutarate Dehydrogenase | 1977 |
Thiamine dependency in a patient with congenital lacticacidaemia due to pyruvate dehydrogenase deficiency.
Topics: Alanine; Fibroblasts; Fructose; Glucagon; Glucose; Humans; Infant; Lactates; Male; Pyruvate Dehydrog | 1977 |
Thiamine responsive pyruvate dehydrogenase deficiency.
Topics: Amino Acid Sequence; Base Sequence; Child; Exercise Test; Gene Deletion; Humans; Kinetics; Male; Mol | 1992 |
Vitamin-responsive pyruvate dehydrogenase deficiency in a young girl with external ophthalmoplegia, myopathy and lactic acidosis.
Topics: Acidosis, Lactic; Child; Female; Humans; Mitochondria; Muscles; Muscular Diseases; Ophthalmoplegia; | 1992 |
Inhibition of pyruvate dehydrogenase complex (PDHC) by antipsychotic drugs.
Topics: Acetazolamide; Ambulatory Care; Animals; Brain; Cattle; Chronic Disease; Drug Therapy, Combination; | 1991 |