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thiamine and Metabolism, Inborn Errors

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.

Research Excerpts

ExcerptRelevanceReference
" This infant was found to have lactic acidosis, low cerebrospinal fluid glucose, hyperalaninemia, and increased levels of urine lactate, pyruvate and alanine."7.65Hyperalaninemia 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."3.65Hyperalaninemia 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)

Research

Studies (25)

TimeframeStudies, this research(%)All Research%
pre-199019 (76.00)18.7374
1990's1 (4.00)18.2507
2000's2 (8.00)29.6817
2010's2 (8.00)24.3611
2020's1 (4.00)2.80

Authors

AuthorsStudies
Felhi, R1
Sfaihi, L1
Charif, M1
Frikha, F1
Aoiadni, N1
Kamoun, T1
Lenaers, G1
Fakhfakh, F1
Eichler, FS1
Swoboda, KJ1
Hunt, AL1
Cestari, DM1
Rapalino, O1
Ortigoza Escobar, JD1
Pérez Dueñas, B1
Kono, S1
Miyajima, H1
Yoshida, K1
Togawa, A1
Shirakawa, K1
Suzuki, H1
Bartlett, K1
Fleisher, LD1
Gaull, GE1
Malaguzzi Valeri, C1
Utter, MF1
Sheu, KF1
Kuroda, Y1
Naito, E1
Ito, M1
Watts, RW1
Chalmers, RA1
Gibbs, DA1
Lawson, AM1
Purkiss, P1
Spellacy, E1
Spirichev, VB1
Iwashima, A1
Nose, Y1
Maesaka, H1
Komiya, K1
Misugi, K1
Tada, K1
Lonsdale, D1
Roth, KS1
Holtzman, NA1
Blass, JP1
Avigan, J1
Uhlendorf, BW1
de Groot, CJ1
Hommes, FA1
Willems, JL1
Monnens, LA1
Trijbels, JM1
Sengers, RC1
Veerkamp, JH1
Gordon, N1
Marsden, HB1
Lewis, DM1
Delzant, G1
Modigliani, E1
Outzekhovsky, G1
Tillement, JP1
Vernant, P1
Niederhoff, H1
Künzer, W1
Baerlocher, K1
Ebels, EJ1
Blokzijl, EJ1
Troelstra, JA1

Reviews

8 reviews available for thiamine and Metabolism, Inborn Errors

ArticleYear
Treatable Inborn Errors of Metabolism Due to Membrane Vitamin Transporters Deficiency.
    Seminars in pediatric neurology, 2016, Volume: 23, Issue:4

    Topics: Child, Preschool; Folic Acid; Folic Acid Deficiency; Humans; Infant; Infant, Newborn; Membrane Trans

2016
Vitamin-responsive inborn errors of metabolism.
    Advances in clinical chemistry, 1983, Volume: 23

    Topics: Acetyl-CoA Carboxylase; Acidosis; Amino Acid Metabolism, Inborn Errors; Animals; Biotin; Folic Acid;

1983
Enzyme manipulation by specific megavitamin therapy.
    Birth defects original article series, 1980, Volume: 16, Issue:1

    Topics: Amino Acids; Biotin; Coenzymes; Enzymes; Folic Acid; Humans; Metabolism, Inborn Errors; Orthomolecul

1980
[Vitamins in metabolic diseases].
    Acta vitaminologica et enzymologica, 1981, Volume: 3, Issue:1

    Topics: Biotin; Dose-Response Relationship, Drug; Folic Acid; Humans; Metabolism, Inborn Errors; Niacin; Nic

1981
[Vitamin dependency syndrome].
    Ryoikibetsu shokogun shirizu, 2000, Issue:29 Pt 4

    Topics: Biotin; Diagnosis, Differential; Folic Acid; Humans; Metabolism, Inborn Errors; Nervous System Disea

2000
[Hereditary disorders of metabolism and function of vitamins].
    Pediatriia, 1975, Issue:7

    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)].
    Tanpakushitsu kakusan koso. Protein, nucleic acid, enzyme, 1976, Volume: 21, Issue:5

    Topics: Adenosine Triphosphate; Animals; Humans; Metabolism, Inborn Errors; Nervous System Diseases; Pyrimid

1976
Dietary treatment of inborn errors of metabolism.
    Annual review of medicine, 1970, Volume: 21

    Topics: Ammonia; Carbohydrate Metabolism, Inborn Errors; Diet Therapy; Female; Fructose; Galactosemias; Glyc

1970

Other Studies

17 other studies available for thiamine and Metabolism, Inborn Errors

ArticleYear
Vitamin B1 deficiency leads to high oxidative stress and mtDNA depletion caused by SLC19A3 mutation in consanguineous family with Leigh syndrome.
    Metabolic brain disease, 2023, Volume: 38, Issue:7

    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.
    The New England journal of medicine, 2017, Dec-14, Volume: 377, Issue:24

    Topics: Basal Ganglia Diseases; Biotin; Brain; Carbidopa; Diagnosis, Differential; Drug Combinations; Dyston

2017
Mutations in a thiamine-transporter gene and Wernicke's-like encephalopathy.
    The New England journal of medicine, 2009, Apr-23, Volume: 360, Issue:17

    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.
    Birth defects original article series, 1980, Volume: 16, Issue:1

    Topics: Animals; Apoenzymes; Biotin; Carboxy-Lyases; Carboxylic Ester Hydrolases; Chickens; Fatty Liver; Hum

1980
Studies on some possible biochemical treatments of primary hyperoxaluria.
    The Quarterly journal of medicine, 1979, Volume: 48, Issue:190

    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.
    European journal of pediatrics, 1976, May-04, Volume: 122, Issue:2

    Topics: Acidosis; Alanine; Female; Glucose; Humans; Infant; Intellectual Disability; Lactates; Liver; Metabo

1976
Hypothesis and case reports: possible thiamin deficiency.
    Journal of the American College of Nutrition, 1990, Volume: 9, Issue:1

    Topics: Adult; Child; Female; Humans; Infant; Male; Metabolism, Inborn Errors; Thiamine; Thiamine Deficiency

1990
Newborn metabolic screening: a search for "nature's experiments".
    Southern medical journal, 1986, Volume: 79, Issue:1

    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.
    The Journal of clinical investigation, 1970, Volume: 49, Issue:3

    Topics: Alanine; Ataxia; Carbon Isotopes; Carboxy-Lyases; Child; Female; Fibroblasts; Humans; Lactates; Leuk

1970
Further speculation on the pathogenesis of Leigh's encephalomyelopathy.
    The Journal of pediatrics, 1973, Volume: 82, Issue:3

    Topics: Aspartic Acid; Brain Stem; Citric Acid Cycle; Encephalomalacia; Humans; Intellectual Disability; Lig

1973
Letter: Pyruvate decarboxylase deficiency in liver.
    The New England journal of medicine, 1974, Feb-14, Volume: 290, Issue:7

    Topics: Carbon Radioisotopes; Carboxy-Lyases; Decarboxylation; Humans; Infant; Liver; Male; Metabolism, Inbo

1974
Subacute necrotising encephalomyelopathy in three siblings.
    Developmental medicine and child neurology, 1974, Volume: 16, Issue:1

    Topics: Age Factors; Alanine; Brain; Brain Stem; Child, Preschool; Encephalomalacia; Female; Gluconeogenesis

1974
Vitamin dependency syndromes.
    The Medical journal of Australia, 1972, Jan-22, Volume: 1, Issue:4

    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].
    La Nouvelle presse medicale, 1972, Jan-01, Volume: 1, Issue:1

    Topics: Adolescent; Beriberi; Child; Edema; Heart Failure; Humans; Male; Metabolism, Inborn Errors; Neurolog

1972
[Thiamine-requiring megaloblastic anemia].
    Deutsche medizinische Wochenschrift (1946), 1969, Sep-26, Volume: 94, Issue:39

    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].
    Schweizerische Rundschau fur Medizin Praxis = Revue suisse de medecine Praxis, 1971, Jun-15, Volume: 60, Issue:24

    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.
    Helvetica paediatrica acta, 1965, Volume: 20, Issue:3

    Topics: Brain Diseases; Child; Child, Preschool; Female; Humans; Infant; Infant, Newborn; Male; Metabolism,

1965