Vitamin B12 deficiency is a rare entity in the pediatric population. It is often of maternal origin in exclusively breast-fed infants. Its clinical manifestations are multiple and unspecific, encompassing hematological problems and neurodevelopmental consequences. Positive diagnosis and early treatment with vitamin B12 supplementation have a rapidly reversible effect on symptoms. Delayed diagnosis, however, may result in irreversible neurological sequelae. We report the case of a six-month-old infant, admitted with hypotonia and psychomotor regression since the age of four months. The laboratory work-up revealed macrocytic anemia with the presence of megakaryocytes and megaloblasts on the myelogram. Vitamin B12 levels were low, and homocysteine levels were high. A maternal workup showed vitamin B12 deficiency in the mother. A brain MRI showed bilateral frontoparietal cortical atrophy. The patient was put on vitamin B12 supplementation with good evolution. The aim of our work is to shed light on the misleading and varied clinical profile of vitamin B12 deficiency in an exclusively breastfed infant, the serious consequences of maternal vitamin B12 deficiency, and the importance of early diagnosis of this condition.
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http://dx.doi.org/10.7759/cureus.64000 | DOI Listing |
FEBS J
December 2024
Department of Functional and Evolutionary Ecology, University of Vienna, Austria.
Corrinoids are cobalt-containing tetrapyrroles. They include adenosylcobalamin (vitamin B) and cobamides that function as cofactors and coenzymes for methyl transfer, radical-dependent and redox reactions. Though cobamides are the most complex cofactors in nature, they are essential in the acetyl-CoA pathway, thought to be the most ancient CO-fixation pathway, where they perform a pterin-to-cobalt-to-nickel methyl transfer reaction catalyzed by the corrinoid iron-sulphur protein (CoFeS).
View Article and Find Full Text PDFBiol Direct
December 2024
School of Bio Sciences and Technology, Vellore Institute of Technology, Vellore, Tamil Nadu, India.
Peroxisome proliferator-activated receptor-γ (PPARγ) is a critical regulator of adipogenesis and bone metabolism, playing complex roles in osteoporosis. This study investigates the effects of taurine and homocysteine on PPARγ, focusing on their roles in osteoclastogenesis and bone health. In-silico analyses, including molecular docking and molecular dynamic simulations, revealed that both taurine and homocysteine bind competitively to the PPARγ ligand-binding domain, exhibiting distinctive antagonistic modes, including destabilization of PPARγ's key helices H3, H4/5, H11, and H12.
View Article and Find Full Text PDFEnviron Health
December 2024
Department of Pediatric Cardiology, School of Medicine, Xinhua Hospital, Shanghai Jiao Tong University, NO1665 Kongjiang Road, Shanghai, 200092, China.
Background: Congenital heart disease (CHD) is a common birth defect. Our previous studies suggest that indoor air pollution, especially total volatile organic compounds (TVOCs), may increase fetal CHD risk, whereas vitamin and folic acid (FA) supplements in early pregnancy might offer protection against CHD. However, limited research has explored whether FA or multivitamin supplementation can mitigate the effects of TVOCs exposure on CHD.
View Article and Find Full Text PDFMedicine (Baltimore)
December 2024
Department of Gastrointestinal Gland Surgery, The First Affiliated Hospital of Guangxi Medical University, Nanning, Guangxi, China.
Although observational studies have revealed a link between frailty and serum micronutrient levels, it remains unclear whether these 2 states are directly connected. Thus, Mendelian randomization (MR) was used to investigate the causal relationship between frailty and blood micronutrient levels. Summary-level data for 15 blood micronutrients (copper, selenium, zinc, calcium, iron, magnesium, potassium, folate, carotene, vitamin A, vitamin B6, vitamin B12, vitamin C, vitamin D, and vitamin E) were obtained from people of European ancestry from the Integrative Epidemiology Unit.
View Article and Find Full Text PDFFront Endocrinol (Lausanne)
December 2024
Department of Thyroid Breast Surgery, The Second Affiliated Hospital, Hengyang Medical School, University of South China, Hengyang, China.
Introduction: Serum folate and vitamin B levels correlate with the prevalence of fatty liver disease, but it is not clear how they affect mortality. Therefore, this study aimed to investigate the association of serum folate and vitamin B concentrations with all-cause mortality in individuals with metabolic dysfunction-associated steatotic liver disease (MASLD).
Methods: MASLD subjects were from the Third National Health and Nutrition Examination Survey (NHANES III) in the United States, and mortality follow-up data were obtained by linkage to death records from the National Death Index.
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