Αποτελέσματα Αναζήτησης
8 Μαρ 2012 · Methylenetetrahydrofolate Reductase (MTHFR) Deficiency is the most common genetic cause of elevated levels of homocysteine in the plasma (hyperhomocysteinemia). The MTHFR enzyme plays an important role in processing amino acids, specifically, the conversion of homocysteine to methionine.
At least 40 mutations in the MTHFR gene have been identified in people with homocystinuria, a disorder in which the body is unable to process homocysteine and methionine properly.
6 ημέρες πριν · Genetic variation in this gene influences susceptibility to occlusive vascular disease, neural tube defects, colon cancer and acute leukemia, and mutations in this gene are associated with methylenetetrahydrofolate reductase deficiency. [provided by RefSeq, Oct 2009]
15 Μαΐ 2024 · People with an MTHFR gene variant can process all types of folate, including folic acid. Getting 400 mcg of folic acid daily can help prevent neural tube defects (NTDs). Folic acid intake is more important for determining blood folate levels than having an MTHFR variant. MTHFR gene: What is it?
17 Αυγ 2024 · Genetic variation in this gene influences susceptibility to occlusive vascular disease, neural tube defects, colon cancer and acute leukemia, and mutations in this gene are associated with methylenetetrahydrofolate reductase deficiency. [provided by RefSeq, Oct 2009]
22 Σεπ 2024 · MTHFR gene mutation affects folate metabolism, linked to higher risk of cardiovascular issues, blood clots, and certain birth defects. It influences methylation and homocysteine levels.
Severe 5,10-methylenetetrahydrofolate reductase (MTHFR) deficiency is caused by mutations in the MTHFR gene and results in hyperhomocysteinemia and varying severity of disease, ranging from neonatal lethal to adult onset.
