Ultrastructural studies indicate that galactoflavin-induced riboflavin deficiency induces asynchrony of rat erythroblast maturation. During the latter stages of maturation erythroblasts retain significantly larger numbers of ribosomes as compared to control cells. Nucleoli are not evident in erythroblasts whose nuclei indicate cells in the latter stages of development. Membrane whorls develop within the mitochondria of plasma cells, eosinophils and neutrophils during the fifth week of riboflavin deficiency. No further evidence of degeneration was noted among additional cell organelles.
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Subcell Biochem
December 2024
Institute for Health and Sport, Victoria University, Werribee, VIC, Australia.
B vitamin complex consist of vitamins B1, B2, B5, B6, B9, B12 and is pivotal for overall health, influencing vital functions such as, energy metabolism, DNA maintenance, and healthy immune system. Inadequate B vitamin levels are associated with various health issues, including neurocognitive problems, immune imbalances, and inflammation. In ageing individuals, deficiencies in B vitamins increase the risk of cardiovascular ailments, stroke, cognitive disorders, neurodegeneration, mental health issues, and methylation-related disorders.
View Article and Find Full Text PDFHum Mol Genet
December 2024
Children's Hospital of Eastern Ontario Research Institute, 401 Smyth Road, Ottawa K1H 8L1, Canada.
Riboflavin transporter deficiency (RTD) is a rare and progressive neurodegenerative disease resulting from the disruption of RFVT2- and RFVT3- mediated riboflavin transport caused by biallelic mutations in SLC52A2 and SLC52A3, respectively. The resulting impaired mitochondrial metabolism leads to sensorimotor neurodegeneration and symptoms including muscle weakness, respiratory difficulty, and sensorineural deafness. Although over 70% of patients with RTD improve following high-dose riboflavin supplementation, remaining patients either stabilise or continue to deteriorate.
View Article and Find Full Text PDFNutrients
November 2024
Postgraduate Program in Epidemiology, School of Medicine, Universidade Federal do Rio Grande do Sul, Porto Alegre 90035-190, Rio Grande do Sul, Brazil.
Background/objectives: Vitamin and/or mineral supplements are designed to correct micronutrient deficiencies or maintain adequate intake. However, evidence suggests the indiscriminate use of these products, particularly among populations that already meet their micronutrient requirements through diet. This study aims to estimate the prevalence of vitamin and/or mineral supplement use and assess the dietary intake of micronutrients among users and non-users in the Brazilian adult and elderly populations.
View Article and Find Full Text PDFNeurology
December 2024
From the Department of Ophthalmology and Visual Sciences (M.A.O.), Division of Genetics and Genomic Medicine (M.S.S.), and Division of Pediatric and Developmental Neurology (C.M.Z.), Washington University School of Medicine, St. Louis, MO; Graduate Medical Education Office (S.M.C.) and Department of Ophthalmology and Visual Neurosciences (S.M.C.), University of Minnesota Medical School, Minneapolis.
Riboflavin transporter deficiency (RTD), previously referred to as Brown-Vialetto-Van Laere syndrome, is caused by pathogenic variants in the , , or genes, resulting in RTD types 1, 2, and 3, respectively. Researchers estimate an occurrence of approximately 1 in 1,000,000. There is only one case of type 1 described in medical literature.
View Article and Find Full Text PDFJIMD Rep
September 2024
Department of Pediatrics University Hospital Center Zagreb and School of Medicine, University of Zagreb Zagreb Croatia.
Dihydrolipoamide dehydrogenase (DLD) deficiency can, in one of its forms, be a rare cause of acute liver failure. Clinical presentation is nonspecific. Biochemical findings can reflect metabolic block, but vary depending on patient and his condition.
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