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Methylmalonic Acidemia
Published in Charles Theisler, Adjuvant Medical Care, 2023
Vitamin B12: Massive doses of vitamin B12 are indicated in B12-responsive variants. In the disorders of cobalamin metabolism, the administration of intramuscular and/or oral hydroxycobalamin may correct the defect and restore normal metabolism.3
Hereditary and Metabolic Diseases of the Central Nervous System in Adults
Published in Philip B. Gorelick, Fernando D. Testai, Graeme J. Hankey, Joanna M. Wardlaw, Hankey's Clinical Neurology, 2020
Treatment of acute encephalopathic attacks is as described earlier in the chapter including IV glucose and correction of metabolic acidosis. High-dose vitamin B12 is a specific and effective treatment that can reverse encephalopathy and white matter changes in late-onset cobalamin C deficiency. However, it needs to be given as high-dose (>1 mg/day) hydroxocobalamin; other forms such as cyanocobalamin are not effective. Other specific treatments include betaine. Protein restriction is not needed.
Cobalamin C, D, F, G diseases; methylmalonic aciduria and variable homocystinuria
Published in William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop, Atlas of Inherited Metabolic Diseases, 2020
William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop
The mutations identified in Cbl D affected three highly conserved amino acids p.Ala 115 Val 114 and p.Gln 68 [11]. Testing for point mutations and C-Terminal/truncation in MMADHC defined a region p.R197-D226 responsible for the MeCbl Cbl synthesis and a Cbl D-HC phenotype. Regions, D226 – D246 gave cellular phenotypes intermediate to Cbl D – HC and Cbl D-MMA/HC, while truncation of 10–20 amino acids gave a Cb D-HC phenotype. MMADHC does not bind cobalamin; so, an interaction with MMACHC has been proposed. The interaction would target cobalamin to the cytosolic pathway, where it could participate with methionine synthase.
Mechanisms of action of vitamin B1 (thiamine), B6 (pyridoxine), and B12 (cobalamin) in pain: a narrative review
Published in Nutritional Neuroscience, 2023
A. M. Paez-Hurtado, C. A. Calderon-Ospina, M. O. Nava-Mesa
In summary, vitamin B12 plays major roles in different mechanisms of action that improve nerve regeneration reducing allodynia and hyperalgesia, modulating neural excitability and conduction velocity, inhibiting ectopic spontaneous discharges in peripheral nerves, and regulating inflammatory mediations responsible for pain signaling. The clinical beneficial effects of cobalamin are depending of the type of painful condition. For instance, although cobalamin may reduce severity in chemotherapy induced peripheral neuropathy, it did not decrease total pain score and pain interference in that pathology [110]. However, it has been shown some evidence (level II and III) of cobalamin in post-herpetic neuralgia and painful peripheral neuropathy [111]. Evidence of vitamin B12 as a monotherapy in other types of pain conditions and diabetic neuropathy is still limited [71,112].
Early nutritional influences of cardiovascular health
Published in Expert Review of Cardiovascular Therapy, 2021
Diana Drogalis-Kim, Ira Cheifetz, Nathaniel Robbins
Plant-ased diets are becoming more common, even in childhood, due to increased understanding of their health and environmental effects as well as greater availability and acceptance of meat alternatives. There has been increasing study into the effects of vegetarian and vegan diets on the health of children. A study of Polish children 5–10 years of age showed decreased prevalence of elevated LDL and lower fat mass in a group following a vegan diet as compared to omnivores. A group following a vegetarian diet had less favorable values for cardiometabolic risk factors and were not significantly different from omnivores [152]. A cross-sectional analysis of 40 Finnish children aged 1–6 years showed similarly lower total and LDL cholesterol in those following a vegan diet compared to omnivores [153]. Micronutrient and total energy deficiencies can be a concern in those adhering to a strict vegan diet. Those following a vegan diet in the study by Desmond et al had decreased stature, decreased bone mineral content, and greater prevalence of micronutrient deficiencies, such as vitamin B12, vitamin D, and iron compared to omnivores. Those following a vegetarian diet did not show these deficiencies [152]. Deficiencies in cobalamin and calcium are also more common in children following a vegan diet [154]. With appropriate, age-specific meal planning with fortification and supplementation as needed, children following a vegan diet can achieve normal growth and normal micronutrient levels [152,155].
Relationships between depression and food intake in climacteric women
Published in Climacteric, 2020
C. M. Oldra, D. M. Benvegnú, D. R. P. Silva, G. W. Wendt, A. P. Vieira
Nguyen et al.37 investigated the relationship between depression and vitamin intake among older Japanese women, finding significant associations between low vitamin C, vitamin D, and vitamin B12 intake with depressive symptoms. These results are similar to those reported in the present study (see Tables 2 and 3). There are several mechanisms and explanations for linking these vitamins with the presence of depressive symptoms. Firstly, vitamin C, also known as ascorbic acid, is known for its important antioxidant effect. It is water-soluble and contributes to the synthesis of dopamine, norepinephrine, and (probably) serotonin. Not surprisingly, vitamin C deficiency has been thought to contribute to the onset of depressive symptoms40. Research has also been conducted in respect to vitamin D, a fat-soluble type of vitamin. Secondly, several brain regions contain vitamin D, vitamin D receptors, and associated enzymes (CYP 24A1, CYP 27B1), highlighting its importance in a variety of brain processes, such as neuroprotection, neuroimmunomodulation, brain development, and regular functioning41. Subsequently, vitamin B12 (or cobalamin) is a water-soluble vitamin responsible for maintaining red blood cells and the metabolism within the nervous system. Finally, studies have investigated the association between vitamin B12 and depression, yet the mechanisms possibly underpinning these links are not fully established42.