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Hyperhomocysteinemia is typically managed with vitamin B 6, vitamin B 9 and vitamin B 12 supplementation. [4] Hyperhomocysteinemia is a risk factor for cardiovascular disease; supplements of these vitamins may slightly reduce stroke outcome but not myocardial infarction, death from any cause or adverse events.
Methylenetetrahydrofolate reductase deficiency is the most common genetic cause of elevated serum levels of homocysteine (hyperhomocysteinemia). It is caused by genetic defects in MTHFR, which is an important enzyme in the methyl cycle. [1] Common variants of MTHFR deficiency are asymptomatic and have only minor effects on disease risk. [2]
Hyperhomocysteinemia has been correlated with the occurrence of blood clots, heart attacks, and strokes, although it is unclear whether hyperhomocysteinemia is an independent risk factor for these conditions. [6] Hyperhomocysteinemia has also been associated with early-term spontaneous abortions [7] and with neural tube defects. [8]
Signs of folate deficiency anemia most of the time are subtle. [4] Anemia (macrocytic, megaloblastic anemia) can be a sign of advanced folate deficiency in adults. [1] Folate deficiency anemia may result in feeling tired, weakness, changes to the color of the skin or hair, open sores on the mouth, shortness of breath, palpitations, lightheadedness, cold hands and feet, headaches, easy bleeding ...
Mayo Clinic is a nonprofit hospital system with campuses in Rochester, Minnesota; Scottsdale and Phoenix, Arizona; and Jacksonville, Florida. [22] [23] Mayo Clinic employs 76,000 people, including more than 7,300 physicians and clinical residents and over 66,000 allied health staff, as of 2022. [5]
Homocystinuria (HCU) [2] is an inherited disorder of the metabolism of the amino acid methionine due to a deficiency of cystathionine beta synthase or methionine synthase. [3] It is an inherited autosomal recessive trait, which means a child needs to inherit a copy of the defective gene from both parents to be affected.
Vitamin B 12 deficiency; Other names: Hypocobalaminemia, cobalamin deficiency: Image of the cervical spinal cord in vitamin B 12 deficiency showing subacute combined degeneration. . (A) The midsagittal T2 weighted image shows linear hyperintensity in the posterior portion of the cervical tract of the spinal cord (black arrow
Robert A. Kyle is a professor of medicine, Laboratory Medicine and Pathology at the Mayo Clinic.He specializes in the care of patients with plasma cell dyscrasias. . Throughout his career Kyle has published more than 1,850 scientific papers and abstracts on myeloma and other plasma cell diso