thiamine has been researched along with BCKD Deficiency in 33 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.
| Excerpt | Relevance | Reference |
|---|---|---|
| "Some patients with maple syrup urine disease respond to thiamine administration with a reduction in ketoaciduria and increase in activity of branched-chain alpha-ketoacid dehydrogenase." | 7.68 | Sequence of the E1 alpha subunit of branched-chain alpha-ketoacid dehydrogenase in two patients with thiamine-responsive maple syrup urine disease. ( Brandt, IK; Crabb, DW; Harris, RA; Wappner, RS; Zhang, B, 1990) |
| "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) |
| "Some patients with maple syrup urine disease respond to thiamine administration with a reduction in ketoaciduria and increase in activity of branched-chain alpha-ketoacid dehydrogenase." | 3.68 | Sequence of the E1 alpha subunit of branched-chain alpha-ketoacid dehydrogenase in two patients with thiamine-responsive maple syrup urine disease. ( Brandt, IK; Crabb, DW; Harris, RA; Wappner, RS; Zhang, B, 1990) |
| "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) |
| "Four patients with classical maple syrup urine disease were treated for up to 5885 days per patient with a relaxed protocol allowing branched-chain amino acid levels in plasma to rise about 5 times the normal mean value." | 1.28 | Maple syrup urine disease: interrelations between branched-chain amino-, oxo- and hydroxyacids; implications for treatment; associations with CNS dysmyelination. ( Chitayat, D; Clow, CL; Mamer, OA; Reade, TR; Scriver, CR; Treacy, E, 1992) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 18 (54.55) | 18.7374 |
| 1990's | 9 (27.27) | 18.2507 |
| 2000's | 3 (9.09) | 29.6817 |
| 2010's | 3 (9.09) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
| Authors | Studies |
|---|---|
| Sharawat, IK | 1 |
| Kochar, GS | 1 |
| Saini, AG | 1 |
| Sankhyan, N | 1 |
| Brown, G | 1 |
| Quintana, E | 1 |
| Pineda, M | 1 |
| Font, A | 1 |
| Vilaseca, MA | 1 |
| Tort, F | 1 |
| Ribes, A | 1 |
| Briones, P | 1 |
| Chuang, JL | 3 |
| Wynn, RM | 3 |
| Moss, CC | 1 |
| Song, JL | 1 |
| Li, J | 1 |
| Awad, N | 1 |
| Mandel, H | 1 |
| Chuang, DT | 6 |
| Bartlett, K | 1 |
| Merinero, B | 1 |
| del Valle, JA | 1 |
| García, MJ | 1 |
| García Miguel, MJ | 1 |
| Barrio, MI | 1 |
| García Hortelano, J | 1 |
| Morales, E | 1 |
| González, F | 1 |
| García Aparicio, J | 1 |
| Sáez Pérez, E | 1 |
| Ku, LS | 2 |
| Cox, RP | 4 |
| Elsas, LJ | 4 |
| Danner, DJ | 4 |
| Kültürsay, N | 1 |
| Kütükçüler, N | 1 |
| Büyükgebiz, B | 1 |
| Kleijer, WJ | 2 |
| Ellerine, NP | 1 |
| Herring, WJ | 1 |
| McKean, MC | 1 |
| Klein, PD | 1 |
| Kuroda, Y | 2 |
| Naito, E | 1 |
| Yoshino, M | 1 |
| Aoki, K | 1 |
| Akeda, H | 1 |
| Hashimoto, K | 1 |
| Ikeda, T | 1 |
| Inoue, F | 1 |
| Ito, M | 1 |
| Kawamura, M | 1 |
| Kohno, Y | 1 |
| Koga, Y | 1 |
| Maesaka, H | 1 |
| Murakamisoda, H | 1 |
| Sugiyama, N | 1 |
| Suzuki, Y | 1 |
| Yano, S | 1 |
| Yoshioka, A | 1 |
| Narisawa, K | 1 |
| Delis, D | 1 |
| Michelakakis, H | 1 |
| Katsarou, E | 1 |
| Bartsocas, CS | 1 |
| Wheeler, FB | 1 |
| Lemmon, SK | 1 |
| Duran, M | 2 |
| Tielens, AG | 1 |
| Wadman, SK | 2 |
| Stigter, JC | 1 |
| Kannan, V | 1 |
| Subramanyam, K | 1 |
| Kodama, S | 1 |
| Seki, A | 1 |
| Hanabusa, M | 1 |
| Morisita, Y | 1 |
| Sakurai, T | 1 |
| Treacy, E | 1 |
| Clow, CL | 2 |
| Reade, TR | 1 |
| Chitayat, D | 1 |
| Mamer, OA | 2 |
| Scriver, CR | 3 |
| Fisher, CW | 1 |
| Lau, KS | 1 |
| Fisher, CR | 1 |
| Zhang, B | 1 |
| Wappner, RS | 1 |
| Brandt, IK | 1 |
| Harris, RA | 1 |
| Crabb, DW | 1 |
| Pueschel, SM | 1 |
| Fernhoff, PM | 1 |
| Lubitz, D | 1 |
| Dembure, PP | 1 |
| Schwartz, HP | 1 |
| Hillman, R | 1 |
| Bier, DM | 1 |
| Roth, KS | 1 |
| George, H | 1 |
| Fregonese, B | 1 |
| La Medica, G | 1 |
| Rainero, L | 1 |
| Famularo, L | 1 |
| Vallarino, G | 1 |
| Merlini, M | 1 |
| Lancaster, G | 1 |
| Wong, PW | 1 |
| Justice, P | 1 |
| Smith, GF | 1 |
| Hsia, DY | 1 |
7 reviews available for thiamine and BCKD Deficiency
| Article | Year |
|---|---|
Defects of thiamine transport and metabolism.
Topics: Animals; Biological Transport; Humans; Maple Syrup Urine Disease; Membrane Transport Proteins; Pyruv | 2014 |
Lessons from genetic disorders of branched-chain amino acid metabolism.
Topics: 3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide); Acyltransferases; Animals; Humans; Maple Syrup Ur | 2006 |
Vitamin-responsive inborn errors of metabolism.
Topics: Acetyl-CoA Carboxylase; Acidosis; Amino Acid Metabolism, Inborn Errors; Animals; Biotin; Folic Acid; | 1983 |
The role of thiamin in maple syrup urine disease.
Topics: 3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide); Amino Acids, Branched-Chain; Cells, Cultured; Chi | 1982 |
[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 |
Thiamine-responsive inborn errors of metabolism.
Topics: 3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide); Anemia, Macrocytic; Anemia, Megaloblastic; Child; | 1985 |
2 trials available for thiamine and BCKD Deficiency
| Article | Year |
|---|---|
Management of acute metabolic decompensation in maple syrup urine disease: a multi-center study.
Topics: Acute Disease; Adolescent; Child; Child, Preschool; Electrolytes; Female; Glucose; Health Care Surve | 1999 |
Thiamine response in maple syrup urine disease.
Topics: 3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide); Amino Acids, Branched-Chain; Child; Child, Presch | 1985 |
24 other studies available for thiamine and BCKD Deficiency
| Article | Year |
|---|---|
"Face of the Giant Panda" Sign and Temporal Cystic Changes in Maple Syrup Urine Disease.
Topics: Carnitine; Diagnosis, Differential; Diet Therapy; Female; Humans; Infant; Magnetic Resonance Imaging | 2019 |
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 |
Structural and biochemical basis for novel mutations in homozygous Israeli maple syrup urine disease patients: a proposed mechanism for the thiamin-responsive phenotype.
Topics: Alleles; Blotting, Western; Centrifugation, Density Gradient; DNA, Complementary; Dose-Response Rela | 2004 |
[3 patients with maple syrup urine disease].
Topics: Amino Acids, Branched-Chain; Cells, Cultured; Fibroblasts; Humans; Infant; Infant, Newborn; Leucine; | 1983 |
Thiamin-responsive maple-syrup-urine disease: decreased affinity of the mutant branched-chain alpha-keto acid dehydrogenase for alpha-ketoisovalerate and thiamin pyrophosphate.
Topics: 3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide); Cells, Cultured; Hemiterpenes; Humans; Keto Acids | 1982 |
Biochemical basis of thiamin-responsive maple syrup urine disease.
Topics: 3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide); Cells, Cultured; Decarboxylation; Female; Fibrobl | 1982 |
A case of maple syrup urine disease misdiagnosed as tetanus neonatorum on admission.
Topics: Adult; Amino Acids, Branched-Chain; Diagnostic Errors; Female; Humans; Infant, Newborn; Maple Syrup | 1994 |
Thiamin-responsive maple syrup urine disease in a patient antigenically missing dihydrolipoamide acyltransferase.
Topics: Acyltransferases; Alleles; Antigens; Base Sequence; Cells, Cultured; Child; Female; Gene Deletion; G | 1993 |
E2 transacylase-deficient (type II) maple syrup urine disease. Aberrant splicing of E2 mRNA caused by internal intronic deletions and association with thiamine-responsive phenotype.
Topics: 3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide); Acyltransferases; Base Sequence; DNA Primers; Hum | 1997 |
Thiamin-responsive maple syrup urine disease: seizures after 7 years of satisfactory metabolic control.
Topics: Amino Acids, Branched-Chain; Child; Electroencephalography; Female; Humans; Maple Syrup Urine Diseas | 2001 |
In vivo and in vitro response of human branched chain alpha-ketoacid dehydrogenase to thiamine and thiamine pyrophosphate.
Topics: Fibroblasts; Hot Temperature; Humans; In Vitro Techniques; Keto Acids; Ketone Oxidoreductases; Leuko | 1978 |
Effects of thiamine in a patient with a variant form of branched-chian ketoaciduria.
Topics: Amino Acids; Carboxy-Lyases; Child; Chromatography, Gas; Fibroblasts; Humans; Keto Acids; Male; Mapl | 1978 |
Maple syrup urine disease. Thiamin responsive branched chain aminoaciduria: a unique case in an adult: (case report).
Topics: Adolescent; Humans; Male; Maple Syrup Urine Disease; Thiamine | 1977 |
Mild variant of maple syrup urine disease.
Topics: Amino Acids; Diagnosis, Differential; Female; Humans; Infant; Maple Syrup Urine Disease; Thiamine | 1976 |
Maple syrup urine disease: interrelations between branched-chain amino-, oxo- and hydroxyacids; implications for treatment; associations with CNS dysmyelination.
Topics: Adolescent; Adult; Amino Acids, Branched-Chain; Brain Diseases; Child; Female; Humans; Maple Syrup U | 1992 |
A 17-bp insertion and a Phe215----Cys missense mutation in the dihydrolipoyl transacylase (E2) mRNA from a thiamine-responsive maple syrup urine disease patient WG-34.
Topics: Acyltransferases; Antisense Elements (Genetics); Base Composition; Base Sequence; Cell Line; Cystein | 1991 |
Sequence of the E1 alpha subunit of branched-chain alpha-ketoacid dehydrogenase in two patients with thiamine-responsive maple syrup urine disease.
Topics: 3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide); Blotting, Western; DNA; Gene Amplification; Human | 1990 |
Thiamine non-responsive intermittent branched-chain ketoaciduria in a Laotian child.
Topics: Child, Preschool; Drug Resistance; Humans; Keto Acids; Laos; Male; Maple Syrup Urine Disease; Thaila | 1986 |
Newborn metabolic screening: a search for "nature's experiments".
Topics: Biopterins; Galactosemias; Homocystinuria; Humans; Infant, Newborn; Keto Acids; Maple Syrup Urine Di | 1986 |
So-called thiamin-responsive maple syrup urine disease: 15-year follow-up of the original patient.
Topics: Adolescent; Amino Acids, Branched-Chain; Cognition; Female; Follow-Up Studies; Humans; Intelligence | 1985 |
[Maple syrup urine disease. Description of a case (classical form) and clinico-therapeutic considerations].
Topics: Amino Acids; Diet Therapy; Humans; Infant; Male; Maple Syrup Urine Disease; Prognosis; Thiamine | 1973 |
Branched-chain alpha-keto acids isolated as oxime derivatives: relationship to the corresponding hydroxy acids and amino acids in maple syrup urine disease.
Topics: Amino Acids; Caproates; Chromatography, Gas; Diet; Fatty Acids; Humans; Keto Acids; Maple Syrup Urin | 1974 |
Vitamin dependency syndromes.
Topics: Amino Acid Metabolism, Inborn Errors; Biotin; Coenzymes; Humans; Infant; Maple Syrup Urine Disease; | 1972 |
A case of classical maple syrup urine disease "thiamine non-responsive".
Topics: Adult; Animals; Carboxy-Lyases; Child, Preschool; Diet Therapy; Female; Fibroblasts; Humans; Infant; | 1972 |