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Thiamine

Aneurin


Presentation

  • RESULTS: Mean age at presentation was 78.45 30.7 days. All infants were exclusively breastfed. 86.2% of mothers were on customary dietary restrictions. Biventricular failure and tachycardia was commonly present. There were four deaths in our series.[ncbi.nlm.nih.gov]
  • She presented with recurrent hemidystonic attacks, triggered by prolonged walking or running, as the unique clinical manifestation that manifested since childhood.[ncbi.nlm.nih.gov]
  • Homozygous mutations in SLC19A2 were identified in three cases in which diabetes presented in the first 6 months of life, and a further two cases in which diabetes presented between 6 and 12 months of age.[ncbi.nlm.nih.gov]
  • The disease can manifest at any time between infancy and adolescence, and not all cardinal findings are present initially. The anemia typically improves significantly with pharmacological doses of thiamine.[ncbi.nlm.nih.gov]
  • Thiamine triphosphate (ThTP) is present in low amounts in most organisms from bacteria to humans, but its biological role remains unknown.[ncbi.nlm.nih.gov]
Pneumonia
  • These patients are usually very ill and often present with several comorbidities, such as shock, sepsis, and pneumonia.[ncbi.nlm.nih.gov]
Incontinence
  • A 44-year-old male alcoholic patient from Morocco developed massive bilateral leg edema, a subacute sensorimotor neuropathy, and incontinence.[ncbi.nlm.nih.gov]

Workup

  • Laboratory workup and neuroimages were initially normal but bilateral globus pallidum involvement appeared later on brain MRI. Dystonia completely remitted after high doses of thiamine, remaining free of symptoms after 3 years of follow up.[ncbi.nlm.nih.gov]
  • (See Pathophysiology, Etiology, Presentation, and Workup.) [6, 7] Dietary thiamine Food that are rich in thiamine are as follows [1] (see Table 1, below): Whole-grain foods Meat/fish/poultry/eggs Milk and milk products Vegetables (ie, green, leafy vegetables[emedicine.medscape.com]
Thiamine Increased
  • Among the fortification groups, the strongest response was observed for plasma thiamine (increased by 266%), while increases in plasma TMP (60%) and eThDP (53%) were comparable.[ncbi.nlm.nih.gov]
  • The recommended dietary allowance of thiamine increases with age. Follow your healthcare provider's instructions. You may also consult the National Academy of Sciences "Dietary Reference Intake" or the U.S.[emedicinehealth.com]
  • Thiamine increases the resistance of baker’s yeast Saccharomyces cerevisiae against oxidative, osmotic and thermal stress, through mechanisms partly independent of thiamine diphosphate-bound enzymes.[nature.com]

Treatment

  • A standardized treatment with SSRI was introduced and kept at therapeutic levels throughout the study. Patients were randomly assigned either to the thiamine or the placebo condition.[ncbi.nlm.nih.gov]
  • Treatment with thiamine led to partial or complete regression of the fatigue within a few hours or days.[ncbi.nlm.nih.gov]
  • Therefore, some of them have already been used in the treatment of coccidiosis (amprolium), other are extensively studied as cytostatics in the treatment of cancer or fungal infections (oxythiamine and pyrithiamine).[ncbi.nlm.nih.gov]
  • Improvement following treatment allowed patients to engage with family and treatment teams prior to death.[ncbi.nlm.nih.gov]
  • We report a precedence case for the treatment of deafness associated with the typical triad of thiamine-responsive megaloblastic anemia in a 4-year-old boy who showed a poor use of preoperative hearing aids but demonstrated significant improvements in[ncbi.nlm.nih.gov]

Prognosis

  • It would be premature to draw general conclusions from one case, but we believe that further patient-based observations can shed light on the pathophysiology of this rare syndrome as well as prediction of its prognosis.[ncbi.nlm.nih.gov]
  • Thiamine defects should be excluded in newborns and infants with lactic acidosis because prognosis largely depends on the time from diagnosis to thiamine supplementation.[ncbi.nlm.nih.gov]
  • Prompt recognition and adequate therapy are key factors in improving prognosis.[medlink.com]
  • If patients with alcoholic cardiomyopathy do not abstain from alcohol, they have a poorer prognosis and significantly higher mortality rates compared with those who do abstain. The 4-year mortality can be as high as 50% [ 2, 13 ].[oapublishinglondon.com]
  • Multimodal techniques for diagnosis and prognosis of Alzheimer’s disease. Nature. 2009; 461 :916–922. [ PMC free article ] [ PubMed ] [ Google Scholar ] 11. Furst AJ, et al. Cognition, glucose metabolism and amyloid burden in Alzheimer’s disease.[ncbi.nlm.nih.gov]

Etiology

  • The clinical presentation of this patient meets the criteria for a Paroxysmal Exercise induced Dystonia, leading us to add this entity as another potential etiology for this type of paroxysmal dyskinesia, which is besides a treatable condition that responds[ncbi.nlm.nih.gov]
  • It was considered that the predominant etiological factor for acute delirium was thiamine deficiency.[dictionary.cambridge.org]
  • Etiology MSUD is due to mutations in the genes encoding 3 of the 4 subunits of branched-chain 2-ketoacid dehydrogenase (BCKAD) complex.[orpha.net]
  • (See Pathophysiology, Etiology, Presentation, and Workup.) [6, 7] Dietary thiamine Food that are rich in thiamine are as follows [1] (see Table 1, below): Whole-grain foods Meat/fish/poultry/eggs Milk and milk products Vegetables (ie, green, leafy vegetables[emedicine.medscape.com]

Epidemiology

  • Additional case reports should be directed to the Epidemiology Branch, Division of Epidemiology and Surveillance, Office of Epidemiology, Center for Drug Evaluation and Research, Food and Drug Administration, Room 15-42, 5600 Fishers Lane, Rock- ville[cdc.gov]
  • Also included are a review of the literature on the epidemiology of thiamine deficiency and its signs and symptoms; thiamine's properties and functions and the recommended daily allowance; and a discussion of food sources of this vitamin and its stability[who.int]
  • Summary Epidemiology MSUD has an estimated incidence of 1/150,000 live births. The thiamine-responsive type appears to be very rare. Clinical description Thiamine-responsive MSUD is poorly characterized.[orpha.net]
  • He has since completed further training in emergency medicine, clinical toxicology, clinical epidemiology and health professional education.[lifeinthefastlane.com]
Sex distribution
Age distribution

Pathophysiology

  • Author information 1 Department of Pathophysiology, Faculty of Medicine, Masaryk University Brno, UKB Kamenice 5/A18, 625 00, Brno, Czech Republic. 2 Department of Biochemistry, Faculty of Medicine, Masaryk University Brno, Kamenice 5, 625 00, Brno, Czech[ncbi.nlm.nih.gov]
  • It would be premature to draw general conclusions from one case, but we believe that further patient-based observations can shed light on the pathophysiology of this rare syndrome as well as prediction of its prognosis.[ncbi.nlm.nih.gov]
  • In the absence of increased dietary intake of thiamine, varying intracellular levels to meet metabolic demands during pathophysiological stressors, such as hypoxia, requires adaptive regulatory mechanisms to increase thiamine transport capacity.[ncbi.nlm.nih.gov]
  • "Fulminant beriberi heart disease with lactic acidosis: presentation of a case with evaluation of left ventricular function and review of pathophysiologic mechanisms." Circulation 58.3 (1978): 566-572. Smeets, E. H. J., H. Muller, and J. De Wael.[derangedphysiology.com]
  • Its biochemistry and pathophysiology are discussed and some of the less common conditions associated with thiamine deficiency are reviewed.[ncbi.nlm.nih.gov]

Prevention

  • Whether the deafness in TRMA syndrome can be prevented is not yet known. Here, we report a four-month-old female infant diagnosed with TRMA syndrome at an early age. There was no hearing loss at the time of diagnosis.[ncbi.nlm.nih.gov]
  • The results confirmed the role of thiamine and thiamine phosphate esters, in preventing metabolic changes and complications of diabetes type 1.[ncbi.nlm.nih.gov]
  • Related publications Pellagra and its prevention and control in major emergencies Scurvy and its prevention and control in major emergencies[who.int]
  • The results imply that an imbalance of phosphorylation-dephosphorylation related to thiamine and glucose metabolism may be a potential target for AD prevention and therapy.[ncbi.nlm.nih.gov]
  • An early molecular genetic verification of the diagnosis provides a sound basis for a successful and simple treatment that helps to prevent severe sequelae.[ncbi.nlm.nih.gov]

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