thiamine has been researched along with Metabolism, Inborn Errors in 25 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.
Metabolism, Inborn Errors: Errors in metabolic processes resulting from inborn genetic mutations that are inherited or acquired in utero.
| Excerpt | Relevance | Reference |
|---|---|---|
| " This infant was found to have lactic acidosis, low cerebrospinal fluid glucose, hyperalaninemia, and increased levels of urine lactate, pyruvate and alanine." | 7.65 | Hyperalaninemia hyperpyruvicemia and lactic acidosis due to pyruvate carboxylase deficiency of the liver; treatment with thiamine and lipoic acid. ( Komiya, K; Maesaka, H; Misugi, K; Tada, K, 1976) |
| " This infant was found to have lactic acidosis, low cerebrospinal fluid glucose, hyperalaninemia, and increased levels of urine lactate, pyruvate and alanine." | 3.65 | Hyperalaninemia hyperpyruvicemia and lactic acidosis due to pyruvate carboxylase deficiency of the liver; treatment with thiamine and lipoic acid. ( Komiya, K; Maesaka, H; Misugi, K; Tada, K, 1976) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 19 (76.00) | 18.7374 |
| 1990's | 1 (4.00) | 18.2507 |
| 2000's | 2 (8.00) | 29.6817 |
| 2010's | 2 (8.00) | 24.3611 |
| 2020's | 1 (4.00) | 2.80 |
| Authors | Studies |
|---|---|
| Felhi, R | 1 |
| Sfaihi, L | 1 |
| Charif, M | 1 |
| Frikha, F | 1 |
| Aoiadni, N | 1 |
| Kamoun, T | 1 |
| Lenaers, G | 1 |
| Fakhfakh, F | 1 |
| Eichler, FS | 1 |
| Swoboda, KJ | 1 |
| Hunt, AL | 1 |
| Cestari, DM | 1 |
| Rapalino, O | 1 |
| Ortigoza Escobar, JD | 1 |
| Pérez Dueñas, B | 1 |
| Kono, S | 1 |
| Miyajima, H | 1 |
| Yoshida, K | 1 |
| Togawa, A | 1 |
| Shirakawa, K | 1 |
| Suzuki, H | 1 |
| Bartlett, K | 1 |
| Fleisher, LD | 1 |
| Gaull, GE | 1 |
| Malaguzzi Valeri, C | 1 |
| Utter, MF | 1 |
| Sheu, KF | 1 |
| Kuroda, Y | 1 |
| Naito, E | 1 |
| Ito, M | 1 |
| Watts, RW | 1 |
| Chalmers, RA | 1 |
| Gibbs, DA | 1 |
| Lawson, AM | 1 |
| Purkiss, P | 1 |
| Spellacy, E | 1 |
| Spirichev, VB | 1 |
| Iwashima, A | 1 |
| Nose, Y | 1 |
| Maesaka, H | 1 |
| Komiya, K | 1 |
| Misugi, K | 1 |
| Tada, K | 1 |
| Lonsdale, D | 1 |
| Roth, KS | 1 |
| Holtzman, NA | 1 |
| Blass, JP | 1 |
| Avigan, J | 1 |
| Uhlendorf, BW | 1 |
| de Groot, CJ | 1 |
| Hommes, FA | 1 |
| Willems, JL | 1 |
| Monnens, LA | 1 |
| Trijbels, JM | 1 |
| Sengers, RC | 1 |
| Veerkamp, JH | 1 |
| Gordon, N | 1 |
| Marsden, HB | 1 |
| Lewis, DM | 1 |
| Delzant, G | 1 |
| Modigliani, E | 1 |
| Outzekhovsky, G | 1 |
| Tillement, JP | 1 |
| Vernant, P | 1 |
| Niederhoff, H | 1 |
| Künzer, W | 1 |
| Baerlocher, K | 1 |
| Ebels, EJ | 1 |
| Blokzijl, EJ | 1 |
| Troelstra, JA | 1 |
8 reviews available for thiamine and Metabolism, Inborn Errors
| Article | Year |
|---|---|
Treatable Inborn Errors of Metabolism Due to Membrane Vitamin Transporters Deficiency.
Topics: Child, Preschool; Folic Acid; Folic Acid Deficiency; Humans; Infant; Infant, Newborn; Membrane Trans | 2016 |
Vitamin-responsive inborn errors of metabolism.
Topics: Acetyl-CoA Carboxylase; Acidosis; Amino Acid Metabolism, Inborn Errors; Animals; Biotin; Folic Acid; | 1983 |
Enzyme manipulation by specific megavitamin therapy.
Topics: Amino Acids; Biotin; Coenzymes; Enzymes; Folic Acid; Humans; Metabolism, Inborn Errors; Orthomolecul | 1980 |
[Vitamins in metabolic diseases].
Topics: Biotin; Dose-Response Relationship, Drug; Folic Acid; Humans; Metabolism, Inborn Errors; Niacin; Nic | 1981 |
[Vitamin dependency syndrome].
Topics: Biotin; Diagnosis, Differential; Folic Acid; Humans; Metabolism, Inborn Errors; Nervous System Disea | 2000 |
[Hereditary disorders of metabolism and function of vitamins].
Topics: Avitaminosis; Biological Transport, Active; Humans; Metabolism, Inborn Errors; Pyridoxine; Thiamine; | 1975 |
[Recent studies on thiamine, with special reference to its metabolism (author's transl)].
Topics: Adenosine Triphosphate; Animals; Humans; Metabolism, Inborn Errors; Nervous System Diseases; Pyrimid | 1976 |
Dietary treatment of inborn errors of metabolism.
Topics: Ammonia; Carbohydrate Metabolism, Inborn Errors; Diet Therapy; Female; Fructose; Galactosemias; Glyc | 1970 |
17 other studies available for thiamine and Metabolism, Inborn Errors
| Article | Year |
|---|---|
Vitamin B1 deficiency leads to high oxidative stress and mtDNA depletion caused by SLC19A3 mutation in consanguineous family with Leigh syndrome.
Topics: Consanguinity; DNA, Mitochondrial; Humans; Leigh Disease; Membrane Transport Proteins; Metabolism, I | 2023 |
Case 38-2017. A 20-Year-Old Woman with Seizures and Progressive Dystonia.
Topics: Basal Ganglia Diseases; Biotin; Brain; Carbidopa; Diagnosis, Differential; Drug Combinations; Dyston | 2017 |
Mutations in a thiamine-transporter gene and Wernicke's-like encephalopathy.
Topics: Adult; Blepharoptosis; Diplopia; Epilepsy, Complex Partial; Gene Expression; Heterozygote; Humans; M | 2009 |
Biochemical mechanisms of biotin and thiamin action and relationships to genetic disease.
Topics: Animals; Apoenzymes; Biotin; Carboxy-Lyases; Carboxylic Ester Hydrolases; Chickens; Fatty Liver; Hum | 1980 |
Studies on some possible biochemical treatments of primary hyperoxaluria.
Topics: Adolescent; Adult; Animals; Child; Cholestyramine Resin; Female; Haplorhini; Humans; Isocarboxazid; | 1979 |
Hyperalaninemia hyperpyruvicemia and lactic acidosis due to pyruvate carboxylase deficiency of the liver; treatment with thiamine and lipoic acid.
Topics: Acidosis; Alanine; Female; Glucose; Humans; Infant; Intellectual Disability; Lactates; Liver; Metabo | 1976 |
Hypothesis and case reports: possible thiamin deficiency.
Topics: Adult; Child; Female; Humans; Infant; Male; Metabolism, Inborn Errors; Thiamine; Thiamine Deficiency | 1990 |
Newborn metabolic screening: a search for "nature's experiments".
Topics: Biopterins; Galactosemias; Homocystinuria; Humans; Infant, Newborn; Keto Acids; Maple Syrup Urine Di | 1986 |
A defect in pyruvate decarboxylase in a child with an intermittent movement disorder.
Topics: Alanine; Ataxia; Carbon Isotopes; Carboxy-Lyases; Child; Female; Fibroblasts; Humans; Lactates; Leuk | 1970 |
Further speculation on the pathogenesis of Leigh's encephalomyelopathy.
Topics: Aspartic Acid; Brain Stem; Citric Acid Cycle; Encephalomalacia; Humans; Intellectual Disability; Lig | 1973 |
Letter: Pyruvate decarboxylase deficiency in liver.
Topics: Carbon Radioisotopes; Carboxy-Lyases; Decarboxylation; Humans; Infant; Liver; Male; Metabolism, Inbo | 1974 |
Subacute necrotising encephalomyelopathy in three siblings.
Topics: Age Factors; Alanine; Brain; Brain Stem; Child, Preschool; Encephalomalacia; Female; Gluconeogenesis | 1974 |
Vitamin dependency syndromes.
Topics: Amino Acid Metabolism, Inborn Errors; Biotin; Coenzymes; Humans; Infant; Maple Syrup Urine Disease; | 1972 |
[Beriberi in a 12-year-old French boy. Abnormality of thiamine phosphorylation].
Topics: Adolescent; Beriberi; Child; Edema; Heart Failure; Humans; Male; Metabolism, Inborn Errors; Neurolog | 1972 |
[Thiamine-requiring megaloblastic anemia].
Topics: Anemia, Macrocytic; Child; Female; Humans; Metabolism, Inborn Errors; Thiamine | 1969 |
[On the importance of vitamins in congenital metabolic disorders and in the vitamin dependency syndrome].
Topics: Avitaminosis; Humans; Metabolism, Inborn Errors; Pyridoxine; Thiamine; Vitamin B 12 Deficiency; Vita | 1971 |
A Wernicke-like encephalomyelopathy in children (Leigh), an inborn error of metabolism? Report of 5 cases with emphasis on its familial incidence.
Topics: Brain Diseases; Child; Child, Preschool; Female; Humans; Infant; Infant, Newborn; Male; Metabolism, | 1965 |