ReviewJournal of inherited metabolic disease2014
Defects of thiamine transport and metabolism.
Review in Journal of inherited metabolic disease, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 41 papers, 1 of them a synthesis that pooled it.
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Who cites it
41 citing papers in PubMed, 1 synthesis or guideline pooled it, 108 citations in OpenAlex.
- Episodic Ataxias: Primary and Secondary Etiologies, Treatment, and Classification Approaches.Tremor and other hyperkinetic movements (New York, N.Y.) · 2023Pooled it
- Thiamine Deficiency in Hospitalized Veterans Without Alcohol Use Disorder: Prevalence, Biomarker Assessment, and Clinical Characteristics.Diseases (Basel, Switzerland) · 2026Article
- Gut Microbiota Dysbiosis and Toxic Metabolite Pathways Linked to Childhood Obesity in Eastern China.Toxics · 2025Article
- Metabolomic Response ofPlants (Basel, Switzerland) · 2024Article
- Effect of Cimetidine on Metformin Pharmacokinetics and Endogenous Metabolite Levels in Rats.Drug metabolism and disposition: the biological fate of chemicals · 2024Article
- Identification and Verification of Hub Mitochondrial Dysfunction Genes in Osteoarthritis Based on Bioinformatics Analysis.Journal of immunology research · 2024Article
- A Complex Interplay between Nutrition and Alcohol use Disorder: Implications for Breaking the Vicious Cycle.Current pharmaceutical design · 2024Review
- Developing of Biotin-Thiamine Responsive Basal Ganglia Disease after Accidental Ingestion of Ethyl Alcohol: A Case Report.Journal of epilepsy research · 2023Article
- Effects of Marginal Zn Excess and Thiamine Deficiency on Microglial N9 Cell Metabolism and Their Interactions with Septal SN56 Cholinergic Cells.International journal of molecular sciences · 2023Article
- In Vivo Evaluation of Thiamine Hydrochloride with Gastro-Retentive Drug Delivery in Healthy Human Volunteers Using Gamma Scintigraphy.Pharmaceutics · 2023Article
- Case report of two affected siblings in a family with thiamine metabolism dysfunction syndrome 5: a rare, but treatable neurodegenerative disease.BMC neurology · 2022Article
- B vitamin supply in plants and humans: the importance of vitamer homeostasis.The Plant journal : for cell and molecular biology · 2022Review
- Biotin-thiamine-responsive basal ganglia disease: A case report.Radiology case reports · 2022Article
- Review
- Early treatment of biotin-thiamine-responsive basal ganglia disease improves the prognosis.Molecular genetics and metabolism reports · 2021Article
- Metabolic Effects of Vitamin B1 Therapy under Overnutrition and Undernutrition Conditions in Sheep.Nutrients · 2021Article
- Endogenous Biomarkers for SLC Transporter-Mediated Drug-Drug Interaction Evaluation.Molecules (Basel, Switzerland) · 2021Review
- Reduced Thiamine Availability and Hyperglycemia Impair Thiamine Transport in Renal Glomerular Cells through Modulation of Thiamine Transporter 2.Biomedicines · 2021Article
- Dietary Folic Acid Alters Metabolism of Multiple Vitamins in a CerS6- and Sex-Dependent Manner.Frontiers in nutrition · 2021Article
- Leigh Syndrome: A Tale of Two Genomes.Frontiers in physiology · 2021Review
Corrections and comments
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Authors and funding
1 author at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Thiamine, in the form of thiamine pyrophosphate, is a cofactor for a number of enzymes which play important roles in energy metabolism. Although dietary thiamine deficiency states have long been recognised, it is only relatively recently that inherited defects in thiamine uptake, activation and the attachment of the active cofactor to target enzymes have been described, and the underlying genetic defects identified. Thiamine is transported into cells by two carriers, THTR1 and THTR2, and deficiency of these results in thiamine-responsive megaloblastic anaemia and biotin-responsive basal ganglia disease respectively. Defective synthesis of thiamine pyrophosphate has been found in a small number of patients with episodic ataxia, delayed development and dystonia, while impaired transport of thiamine pyrophosphate into the mitochondrion is associated with Amish lethal microcephaly in most cases. In addition to defects in thiamine uptake and metabolism, patients with pyruvate dehydrogenase deficiency and maple syrup urine disease have been described who have a significant clinical and/or biochemical response to thiamine supplementation. In these patients, an intrinsic structural defect in the target enzymes reduces binding of the cofactor and this can be overcome at high concentrations. In most cases, the clinical and biochemical abnormalities in these conditions are relatively non-specific, and the range of recognised presentations is increasing rapidly at present as new patients are identified, often by genome sequencing. These conditions highlight the value of a trial of thiamine supplementation in patients whose clinical presentation falls within the spectrum of documented cases.
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