Search results for "Methylmalonic acid"

showing 4 items of 4 documents

CCDC 280155: Experimental Crystal Structure Determination

2005

Related Article: H.Nunez, L.Soto, J.Server-Carrio, J.Garcia-Lozano, A.Sancho, R.Acerete, E.Escriva|2005|Inorg.Chem.|44|4644|doi:10.1021/ic048234x

Space GroupCrystallographyCrystal SystemCrystal StructureCell Parametersbis(2(1H)-Imidazolyl)methylmalonic acid monohydrateExperimental 3D Coordinates
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Adequate vitamin B12 and folate status of Norwegian vegans and vegetarians

2022

AbstractPlant-based diets may increase the risk of vitamin B12 deficiency due to limited intake of animal-source foods, while dietary folate increases when adhering to plant-based diets. In this cross-sectional study, we evaluated the B12 and folate status of Norwegian vegans and vegetarians using dietary B12 intake, B12 and folic acid supplement use, and biomarkers (serum B12 (B12), plasma total homocysteine (tHcy), plasma methylmalonic acid (MMA) and serum folate). Vegans (n 115) and vegetarians (n 90) completed a 24-h dietary recall and a FFQ and provided a non-fasting blood sample. cB12, a combined indicator for evaluation of B12 status, was calculated. B12 status was adequate in both v…

VegansFolateand promotion of well-beingNutrition and DieteticsVitamin B12Nutrition & DieteticsVitamin B-12PreventionB-12 dietary intakeMedicine (miscellaneous)Prevention of disease and conditionsCardiovascularB12 dietary intakeMethylmalonic acidVDP::Medisinske Fag: 700::Helsefag: 800::Ernæring: 811Food SciencesAnimal ProductionComplementary and Integrative Health3.3 Nutrition and chemopreventionHomocysteineVegetariansNutritionBritish Journal of Nutrition
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Investigation on a MMACHC mutant from cblC disease: The c.394C>T variant

2022

The cblC disease is an inborn disorder of the vitamin B12 (cobalamin, Cbl) metabolism characterized by methylmalonic aciduria and homocystinuria. The clinical consequences of this disease are devastating and, even when early treated with current therapies, the affected children manifest symptoms involving vision, growth, and learning. The illness is caused by mutations in the gene codifying for MMACHC, a 282aa protein that transports and transforms the different Cbl forms. Here we present data on the structural properties of the truncated protein p.R132X resulting from the c.394C > T mutation that, along with c.271dupA and c.331C > T, is among the most common mutations in cblC. Althou…

Vitamin B12 (cobalamin)Structure-function relationshipBiophysicsBiochemistryAnalytical ChemistryVitamin B 12MutationMMACHC proteinHumansMethylmalonic aciduria and homocystinuria cblC typeHomocystinuriaCarrier ProteinsChildOxidoreductasesAmino Acid Metabolism Inborn ErrorsMolecular BiologyBiochimica et Biophysica Acta (BBA) - Proteins and Proteomics
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Early Biochemical and Hematological Response to Intramuscular Cyanocobalamin Therapy in Vitamin B<sub>12</sub>-Deficient Patients

2013

<b><i>Background:</i></b> Data on early biochemical and hematological responses to cobalamin therapy in vitamin B<sub>12</sub>-deficient patients are scarce. Therefore, we investigated whether cobalamin injections would include prompt biochemical and hematological responses in vitamin B<sub>12</sub>-deficient patients. <b><i>Subjects and Methods:</i></b> Seven female patients (mean age: 69.4 years, range: 61-78) with a mean serum cobalamin level of 104 ± 38 pmol/l mean ± SD and 7 male patients (mean age: 67.0 years, range: 53-78) with a mean serum cobalamin level of 84 ± 40 (±SD) participated in the study. They were adm…

Vitamin bVitaminNutrition and Dieteticsintegumentary systemMethionine metabolismErythrocyte indicesMethylmalonic acidnutritional and metabolic diseasesMedicine (miscellaneous)PhysiologyHematological responsePharmacologyCobalaminchemistry.chemical_compoundchemistryhemic and lymphatic diseasespolycyclic compoundsheterocyclic compoundsCyanocobalaminAnnals of Nutrition and Metabolism
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