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methylmalonic

Genetic and cellular studies of oxidative stress in methylmalonic aciduria (MMA) cobalamin deficiency type C (cblC) with homocystinuria (MMACHC) PDF Print Write e-mail
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Thursday, 24 June 2010 06:39, Written by
Methylmalonic aciduria (MMA) cobalamin deficiency type C (cblC) with homocystinuria (MMACHC) is the most frequent genetic disorder of vitamin B12 metabolism. The aim of this work was to identify the mutational spectrum in a cohort of cblC-affected patients and the analysis of the cellular oxidative stress and apoptosis processes, in the presence or absence of vitamin B12. The mutational spectrum includes nine previously described mutations: c.3G>A (p.M1L), c.217C>T (p.R73X), c.271dupA (p.R91KfsX14), c.331C>T (p.R111X), c.394C>T (p.R132X), c.457C>T (p.R153X), c.481C>T (p.R161X), c.565C>A (p.R189S), and c.615C>G (p.Y205X), and two novel changes, c.90G>A (p.W30X) and c.81+2T>G (IVS1+2T>G). The most frequent change was the known c.271dupA mutation, which accounts for 85% of the mutant alleles ...
Vitamin B12 Deficiency Stimulates Osteoclastogenesis via Increased Homocysteine and Methylmalonic Acid PDF Print Write e-mail
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Thursday, 24 June 2010 06:39, Written by
Abstract  The risk of nutrient deficiencies increases with age in our modern Western society, and vitamin B12 deficiency is especially prevalent in the elderly and causes increased homocysteine (Hcy) and methylmalonic acid (MMA) levels. These three factors have been recognized as risk factors for reduced bone mineral density and increased fracture risk, though mechanistic evidence is still lacking. In the present study, we investigated the influence of B12, Hcy, and MMA on differentiation and activity of bone cells. B12 deficiency did not affect the onset of osteoblast differentiation, maturation, matrix mineralization, or adipocyte differentiation from human mesenchymal stem cells (hMSCs). B12 deficiency caused an increase in the secretion of Hcy and MMA into the culture medi...
Multiple OXPHOS deficiency in the liver of a patient with CblA methylmalonic aciduria sensitive to vitamin B12 PDF Print Write e-mail
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Thursday, 24 June 2010 06:39, Written by
Summary  An adult patient with methylmalonic aciduria due to defective cobalamin synthesis (CblA) responsive to vitamin B12 presented suddenly with severe visual impairment ascribed to optic atrophy followed by a fatal multiorgan failure and lactic acidosis but low methylmalonic acid in plasma and urine. Multiple deficiency of oxidative phosphorylation was found in the patient’s liver. We suggest that patients with B12-sensitive methylmalonic aciduria who have a milder clinical course should be carefully monitored for long-term complications. Content Type Journal ArticleCategory SSIEM Symposium 2008DOI 10.1007/s10545-009-1023-1Authors V. Valayannopoulos, Hôpital Necker-Enfants Malades and Université Paris Descartes Reference Center for Inherited Metabolic Disorders 149...
Low serum cobalamin concentrations in cats PDF Print Write e-mail
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Thursday, 24 June 2010 06:39, Written by
Cats with gastrointestinal disease have low serum cobalamin (vitamin B12) concentrations. Cobalamin is involved in the metabolism of all cells and affects fatty acid synthesis, DNA synthesis, and red blood cell and energy production. Methionine synthesis is dependent on cobalamin. A deficiency of cobalamin causes a serum accumulation of the methionine precursor, methylmalonic acid (MMA). (Source: Advances in Small Animal Medicine and Surgery)

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