metabolism of cobalamin associated A
Última actualización 1 Jun 2021
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El MMAA gene provides instructions for making a protein that is involved in the formation of a compound called adenosylcobalamin (AdoCbl). AdoCbl, which is derived from vitamin B12 (also called cobalamin), is necessary for the normal function of an enzyme known as methylmalonyl CoA mutase. This enzyme helps break down certain proteins, fats (lipids), and cholesterol.
Normal function
El MMAA gene provides instructions for making a protein that is involved in the formation of a compound called adenosylcobalamin (AdoCbl). AdoCbl, which is derived from vitamin B12 (also called cobalamin), is necessary for the normal function of an enzyme known as methylmalonyl CoA mutase. This enzyme helps break down certain proteins, fats (lipids), and cholesterol.
Research indicates that the MMAA protein may play a role in one of the last steps in AdoCbl formation, the transport of vitamin B12 into mitochondria (specialized structures inside cells that serve as energy-producing centers). Additional chemical reactions then convert vitamin B12 into AdoCbl. Other studies suggest that the MMAA protein may help stabilize methylmalonyl CoA mutase and protect the enzyme from being turned off (inactivated).
Conditions referring to this gene or chromosome
Otros nombres
cblA
methylmalonic aciduria (cobalamin deficiency) cblA type
methylmalonic aciduria (cobalamin deficiency) type A
methylmalonic aciduria type A
MMAA_HUMAN
Related patient information and medicines
Patient information leaflet
¿Puedo tomar Ashwagandha y Vitamina B12 juntos?
They do not compete for absorption or interfere with each other's effects. Ashwagandha and Vitamin B12 (cobalamin) use different pathways in the body. Ashwagandha is primarily metabolised by liver enzymes, while Vitamin B12 is absorbed in the small intestine and stored in the liver. How to take ashwagandha and vitamin B12 safely You can continue.
Patient information leaflet
¿Puedo tomar Levotiroxina y Vitamina B12 juntos?
There is no known direct interaction between levo... They do not interfere with how each other works in the body, nor do they change how each other is absorbed or broken down. Why this happens Levothyroxine is a synthetic thyroid hormone absorbed in the small intestine, while vitamin B12 (cobalamin) is absorbed further down in the ileum con the.
Patient information leaflet
¿Puedo tomar Vitamina B12 y Vitamina B2 juntas?
There is no known harmful interaction between vitamin B12 (cobalamin) and vitamin B2 (riboflavin). In fact, these vitamins often work together to support your health. Why this happens Vitamin B12 and vitamin B2 are both water-soluble vitamins from the B-complex family. They do not interfere with each other's absorption, metabolism, o excretion..
Patient information leaflet
¿Puedo tomar Hidroxocobalamina y Lipitor juntos?
Hay no known interactions between hydroxocobalamin (Vitamin B12) and Lipitor (atorvastatin). It is safe to take these two medications together. Why this happens These medications are processed by different pathways in the body. Hydroxocobalamin is a synthetic form of Vitamin B12 used to treat deficiencies, while Lipitor es un statin used to.
Patient information leaflet
¿Puedo tomar Hidroxocobalamina y Stexerol D3 juntos?
There are no known harmful interactions between hydroxocobalamin and Stexerol-D3. It is safe to take these two medications together. Why this happens Hydroxocobalamin is a form of Vitamin B12, and Stexerol-D3 is a brand of Vitamin D3 (cholecalciferol). These vitamins are processed by different pathways in the body and do not interfere with each.
Patient information leaflet
¿Puedo tomar hierba de San Juan y vitamina B12 juntas?
Why this happens St John's wort is known to affect the liver enzymes (specifically CYP3A4) and a transport protein (P-glycoprotein) that clear many medicines from the body. However, Vitamin B12 (cobalamin) is a water-soluble vitamin that is absorbed and processed by the body through different pathways that are not affected by these enzymes. What.
Lecturas adicionales y referencias
- metabolism of cobalamin associated A; MedlinePlus, National Library of Medicine.
- Chandler RJ, Venditti CP. Genetic and genomic systems to study methylmalonic acidemia. Mol Genet Metab. 2005 Sep-Oct;86(1-2):34-43. doi: 10.1016/j.ymgme.2005.07.020. Epub 2005 Sep 22.
- Dobson CM, Wai T, Leclerc D, Wilson A, Wu X, Dore C, Hudson T, Rosenblatt DS, Gravel RA. Identification of the gene responsible for the cblA complementation group of vitamin B12-responsive methylmalonic acidemia based on analysis of prokaryotic gene arrangements. Proc Natl Acad Sci U S A. 2002 Nov 26;99(24):15554-9. doi: 10.1073/pnas.242614799. Epub 2002 Nov 15.
- Froese DS, Kochan G, Muniz JR, Wu X, Gileadi C, Ugochukwu E, Krysztofinska E, Gravel RA, Oppermann U, Yue WW. Structures of the human GTPase MMAA and vitamin B12-dependent methylmalonyl-CoA mutase and insight into their complex formation. J Biol Chem. 2010 Dec 3;285(49):38204-13. doi: 10.1074/jbc.M110.177717. Epub 2010 Sep 28.
- Horster F, Baumgartner MR, Viardot C, Suormala T, Burgard P, Fowler B, Hoffmann GF, Garbade SF, Kolker S, Baumgartner ER. Long-term outcome in methylmalonic acidurias is influenced by the underlying defect (mut0, mut-, cblA, cblB). Pediatr Res. 2007 Aug;62(2):225-30. doi: 10.1203/PDR.0b013e3180a0325f.
- Korotkova N, Lidstrom ME. MeaB is a component of the methylmalonyl-CoA mutase complex required for protection of the enzyme from inactivation. J Biol Chem. 2004 Apr 2;279(14):13652-8. doi: 10.1074/jbc.M312852200. Epub 2004 Jan 20.
- Lerner-Ellis JP, Dobson CM, Wai T, Watkins D, Tirone JC, Leclerc D, Dore C, Lepage P, Gravel RA, Rosenblatt DS. Mutations in the MMAA gene in patients with the cblA disorder of vitamin B12 metabolism. Hum Mutat. 2004 Dec;24(6):509-16. doi: 10.1002/humu.20104.
- Manoli I, Sloan JL, Venditti CP. Isolated Methylmalonic Acidemia. 2005 Aug 16 [updated 2022 Sep 8]. In: Adam MP, Bick S, Mirzaa GM, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK1231/
- Yang X, Sakamoto O, Matsubara Y, Kure S, Suzuki Y, Aoki Y, Suzuki Y, Sakura N, Takayanagi M, Iinuma K, Ohura T. Mutation analysis of the MMAA and MMAB genes in Japanese patients with vitamin B(12)-responsive methylmalonic acidemia: identification of a prevalent MMAA mutation. Mol Genet Metab. 2004 Aug;82(4):329-33. doi: 10.1016/j.ymgme.2004.05.002.
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