Search results
Results from the WOW.Com Content Network
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. [5]
Defects in variants of MTHFR can therefore lead to hyperhomocysteinemia. [9] There are two common variants of MTHFR deficiency. In the more significant of the two, the individual is homozygous for the 677T polymorphism. This variant in particular is the most common genetic cause of hyperhomocysteinemia. [9]
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]
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.
Treatment with other drugs or vitamins is unsupported by clinical evidence, "but trials evaluating the effect of folate and vitamin B 12 on hyperhomocysteinemia, a putative vascular risk factor, are near completion". [74]
Hyperhomocysteinemia is a medical condition characterized by an abnormally large level of homocysteine in the blood. Mutations in CBS are the single most common cause of hereditary hyperhomocysteinemia. Genetic defects that affect the MTHFR, MTR, and MTRR/MS enzyme pathways can also contribute to high homocysteine levels. Inborn errors in CBS ...
Treatment should take into account the cause and severity of the condition. [6] Treatment is done by vitamin B 12 supplementation, either by mouth or by injection. [3] Initially in high daily doses, followed by less frequent lower doses, as the condition improves. [3] If a reversible cause is found, that cause should be corrected if possible. [11]
Levomefolic acid (INN, also known as L-5-MTHF, L-methylfolate and L-5-methyltetrahydrofolate and (6S)-5-methyltetrahydrofolate, and (6S)-5-MTHF) is the primary biologically active form of folate used at the cellular level for DNA reproduction, the cysteine cycle and the regulation of homocysteine.