BACKGROUND Biotin-thiamine responsive basal ganglia disease is a severe, but potentially treatable disorder caused by mutations in the SLC19A3 gene. Although the disease is inherited in an autosomal recessive manner, patients with typical phenotypes carrying single heterozygous mutations have been reported. This makes the diagnosis uncertain and may delay treatment. METHODS AND RESULTS In two...

As shown in the previous paper, a metabolite of thiamine anhydride (TA) (I) was isolated as crystals melting at 172-173•‹ from the urine when TA was given parenterally to rats and it was assumed to be thiamine anhydride sulfoxide (TAO) (II) from its analytical data. It is known, however, that TA can be oxidized to TA sulfone (III) besides its sulfoxide by hydrogen peroxide according to the con ...

Background: Thiamine (VitB1) is a vitamin with various important physiological functions and postulated therapeutic effects.  Its use as an analgesic in neuropathic pain has been undergoing in clinical settings. However, there has been little experimental investigation on this effect. In this study, anti-nociceptive and anti-inflammatory effects of thiamine were investigated in mice. Methods: T...

Two types of mutants of Escherichia coli were isolated, one of which (mutant 70-23-107) responded to thiamine pyrophosphate, and the other (mutant 70-23-102) to thiamine monophosphate and thiamine pyrophosphate. They were produced by further mutation of a thiamine auxotroph of E. coli 70-23 with N-methyl-N'-nitro-N-nitrosoguanidine. The parent organism required thiamine because phosphohydroxyme...

BACKGROUND AND PURPOSE Biotin-responsive basal ganglia disease is an autosomal recessive neurometabolic disorder presenting with subacute encephalopathy that can cause death if left untreated. The purpose of this study is to assess the neuroimaging and clinical features of the disease before and after treatment with biotin. MATERIALS AND METHODS We retrospectively reviewed the clinical, labor...

BACKGROUND The provision of high doses of thiamine may prevent thiamine deficiency in the post-partum period of displaced persons. METHODOLOGY/PRINCIPAL FINDINGS The study aimed to evaluate a supplementation regimen of thiamine mononitrate (100 mg daily) at the antenatal clinics in Maela refugee camp. Women were enrolled during antenatal care and followed after delivery. Samples were collecte...

1. Aerobic or anaerobic incubation at 37 degrees of Ehrlich ascites-carcinoma cells in Krebs-Ringer bicarbonate medium containing glucose and labelled thiamine results in accumulation in the cell of labelled thiamine, so that the concentration of total labelled thiamine in the cells greatly exceeds (by a factor 7) that in the medium. This concentration ratio is approximately constant for small ...

Thiamine (vitamin B1) is an essential cofactor for all organisms. Humans primarily acquire thiamine through their diet, and thiamine deficiencies have adverse neurological effects. However, the role gut microbes play in modulating thiamine availability is poorly understood, and little is known about how thiamine impacts the stability of microbial gut communities. To investigate thiamine's role ...