5-methyltetrahydrofolate-homocysteine methyltransferase reductase
Última atualização 8 de maio de 2023
Atende aos diretrizes editoriais
- BaixarBaixar
- Compartilhar
- Language
- Discussão
- Versão em Áudio
- Adicionar às fontes preferidas no Google
A MTRR gene provides instructions for making an enzyme called methionine synthase reductase. This enzyme is required for the proper function of another enzyme called methionine synthase. Methionine synthase helps process amino acids, which are the building blocks of proteins. Specifically, it converts the amino acid homocysteine to another amino acid called methionine. After a period of being turned on (active), methionine synthase turns off (becomes inactive). Methionine synthase reductase reactivates methionine synthase so the enzyme can continue to produce methionine.
Normal function
A MTRR gene provides instructions for making an enzyme called methionine synthase reductase. This enzyme is required for the proper function of another enzyme called methionine synthase. Methionine synthase helps process amino acids, which are the building blocks of proteins. Specifically, it converts the amino acid homocysteine to another amino acid called methionine. After a period of being turned on (active), methionine synthase turns off (becomes inactive). Methionine synthase reductase reactivates methionine synthase so the enzyme can continue to produce methionine.
Conditions referring to this gene or chromosome
Other names
cblE
methionine synthase reductase
MSR
MTRR_HUMAN
Related patient information and medicines
Patient information leaflet
Doença de Parkinson
Doença de Parkinson is a progressive neurological degeneration of certain cells (called dopaminergic cells) within a specific part of the brain (substantia nigra). The National Institute for Health e Care Excellence (NICE) has just approved a few devices to help monitor people's symptoms. Sometimes these medicines are used in combination with.
Patient information leaflet
Próstata aumentada
Medicines The decision to treat with medicines usually depends on how much bother the symptoms are causing you. There are two groups of medicines that may help: Alpha-blockers. 5-alpha reductase inhibitors. This can improve the flow of urine. 5-alpha reductase inhibitor medicines. These work by blocking the conversi... They do this by blocking a.
Patient information leaflet
Trombofilia
Usually, acquired thrombophilias become apparent in adulthood. They can happen as a result of other medical problems that have developed, or they might be due to problems with the immune system. If you have had a b... Mixed inherited/acquired thrombophilias These are due both to genetic and to non-genetic causes. Hyperhomocysteinaemia This is a.
Patient information leaflet
Macrocitose e anemia macrocítica
Macrocytosis refers to glóbulos vermelhos which are larger than normal. It does not cause any symptoms in itself. Macrocytosis symptoms You may also find relevant information in our other separate leaflet called What is blood. Macrocytosis can exist without anaemia. Macrocytosis itself does not cause any symptoms but can be a sign of low levels of.
Patient information leaflet
Sangue no sêmen
Haematospermia means there is blood in the semen. Usually there are no other symptoms such as pain. The haematospermia itself does not need any treatment. Medicines If you have persistent haematospermia without an identified cause then a type of medicine called a 5-alpha reductase inhibitor such as finasteride or dutasteride may be effective..
Patient information leaflet
Doença renal policística
Polycystic kidney disease (PKD) causes many fluid-filled sacs (cysts) to develop in the kidneys. The most common type of PKD is an inherited condition called autosomal dominant polycystic kidney disease (ADPKD). With ADPKD, problems commonly do not develop until the age of 30-50, with some people never developing any problems. About half of ADPKD.
Leitura adicional e referências
- 5-methyltetrahydrofolate-homocysteine methyltransferase reductase; MedlinePlus, National Library of Medicine.
- Carmel R, Green R, Rosenblatt DS, Watkins D. Update on cobalamin, folate, and homocysteine. Hematology Am Soc Hematol Educ Program. 2003:62-81. doi: 10.1182/asheducation-2003.1.62.
- Doolin MT, Barbaux S, McDonnell M, Hoess K, Whitehead AS, Mitchell LE. Maternal genetic effects, exerted by genes involved in homocysteine remethylation, influence the risk of spina bifida. Am J Hum Genet. 2002 Nov;71(5):1222-6. doi: 10.1086/344209. Epub 2002 Oct 9.
- Gueant-Rodriguez RM, Rendeli C, Namour B, Venuti L, Romano A, Anello G, Bosco P, Debard R, Gerard P, Viola M, Salvaggio E, Gueant JL. Transcobalamin and methionine synthase reductase mutated polymorphisms aggravate the risk of neural tube defects in humans. Neurosci Lett. 2003 Jul 3;344(3):189-92. doi: 10.1016/s0304-3940(03)00468-3.
- Hobbs CA, Sherman SL, Yi P, Hopkins SE, Torfs CP, Hine RJ, Pogribna M, Rozen R, James SJ. Polymorphisms in genes involved in folate metabolism as maternal risk factors for Down syndrome. Am J Hum Genet. 2000 Sep;67(3):623-30. doi: 10.1086/303055. Epub 2000 Aug 7.
- Vilaseca MA, Vilarinho L, Zavadakova P, Vela E, Cleto E, Pineda M, Coimbra E, Suormala T, Fowler B, Kozich V. CblE type of homocystinuria: mild clinical phenotype in two patients homozygous for a novel mutation in the MTRR gene. J Inherit Metab Dis. 2003;26(4):361-9. doi: 10.1023/a:1025159103257.
- Wilson A, Leclerc D, Rosenblatt DS, Gravel RA. Molecular basis for methionine synthase reductase deficiency in patients belonging to the cblE complementation group of disorders in folate/cobalamin metabolism. Hum Mol Genet. 1999 Oct;8(11):2009-16. doi: 10.1093/hmg/8.11.2009.
- Zavadakova P, Fowler B, Zeman J, Suormala T, Pristoupilova K, Kozich V, Zavad'akova P. CblE type of homocystinuria due to methionine synthase reductase deficiency: clinical and molecular studies and prenatal diagnosis in two families. J Inherit Metab Dis. 2002 Oct;25(6):461-76. doi: 10.1023/a:1021299117308.
Participe da conversa
Compartilhe seus pensamentos ou experiências com outros em nosso comunidades de pacientes.
Pergunte, compartilhe, conecte-se.
Navegue por discussões, faça perguntas e compartilhe experiências em centenas de tópicos de saúde.
Inscreva-se no boletim informativo do Patient
Sua dose semanal de conselhos de saúde claros e confiáveis - escritos para ajudá-lo a se sentir informado, confiante e no controle.
Ao se inscrever, você aceita nossos Política de Privacidade. Você pode cancelar a inscrição a qualquer momento. Nunca vendemos seus dados.