Hyperhomocysteinemia is a condition where the concentration of homocysteine in the plasma is abnormally high, leading to various complications such as stroke, heart attack, and osteoporosis. It can be caused by inherited mutated genes, excessive exercise, a diet low in folate, vitamin B6 or B12, kidney disease, or medications. Treatment includes vitamin supplements, a low-protein diet, and blood thinners.
Hyperhomocysteinemia is a medical condition in which the total plasma concentration of homocysteine is abnormally high. This disorder is associated with several vascular, neurological, and skeletal problems including stroke, heart attack, blood clotting, mental retardation, eye abnormalities, and osteoporosis, among many other complications. Hyperhomocysteinemia can be caused by having one or two inherited mutated genes that cause an inability to break down homocysteine, a naturally occurring chemical in the body. Elevated homocysteine can also occur as a result of excessive exercise, a diet that is too low in folate, vitamin B6 or vitamin B12, kidney disease, or in reaction to medications.
Hyperhomocysteinemia increases the risk of clotting or thrombosis and leads to various serious complications, such as stroke or heart attack. Homocysteine is normally produced within the body for various functions needed within cells, but is bound to be rapidly broken down by enzymes. Enzymes are proteins within the body that have the ability to react and break down other chemicals. The enzymes involved in the breakdown of homocysteine are called methionine synthase (MS), methylenetetrahydrofolate reductase (MTHFR), and cystathionine beta-synthase (CBS).
Methionine synthase needs vitamin B12, a vitamin found in animal products, to perform its functions, so diet and other disorders that affect vitamin B12 can lead to the form of MS hyperhomocysteinemia. Similarly, if MTHFR or CBS cannot be formed, it can also lead to an increase in homocysteine in the blood. Some people, however, are born with mutated genes that prevent the CBS and MTHFR enzymes from forming properly.
The rare disease that affects CBS is called homocystinuria or CBS deficiency. This disorder often shows no symptoms at birth, although nearly a quarter of all those with CBS deficiency die by the age of thirty. Symptoms include seizures, mental retardation, lanky build, knees, eye abnormalities, clotting, homocysteine in urine, and hardening of the arteries. This disorder is caused by a recessive gene, so a person needs to get the gene from both parents to develop the full-blown disorder. Someone with only one gene, however, might experience mild symptoms.
A person with one mutation in the gene for MTHFR may also suffer from mild elevations in homocysteine, but a person with two mutations, or one homozygous mutation, will develop a much more troublesome hyperhomocysteinemia. Manifestations of this disorder are similar to a CBS deficiency and include stroke, heart attack and other thrombotic complications at an early age, long bones, ocular abnormalities, mental retardation, seizures, fatty liver, and osteoporosis. Some have also proposed a relationship between Alzheimer’s and hyperhomocysteinemia.
Treatment for hyperhomocysteinemia includes vitamin supplements, a low-protein diet, and blood thinners. These treatments aren’t always effective, but they can, in some cases, help lengthen the lifespan of someone with profoundly elevated homocysteine. For those with more situational homocysteine elevations, a change in diet can be very effective.
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