How common is hyperhomocysteinemia?
The prevalence of any genetic defect leading to hyperhomocysteinemia is approximately 1%. The far more common cause of hyperhomocysteinemia results from a deficiency in B6, B12, or folate, thus restricting cofactors necessary for transsulfuration or transmethylation.
What are the causes of hyperhomocysteinemia?
The main cause of hyperhomocysteinemia is a dysfunction of enzymes and cofactors associated with the process of homocysteine biosynthesis. Other causes include excessive methionine intake, certain diseases and side effects of some drugs.
What is the difference between hyperhomocysteinemia and homocystinuria?
Homocysteine is an intermediary amino acid formed by the conversion of methionine to cysteine (figure 1). Homocystinuria is a rare autosomal recessive disorder characterized by severe elevations in plasma and urine homocysteine concentrations.
Is hyperhomocysteinemia genetic?
Genetic mutations in MTHFR are the most commonly known inherited risk factor for elevated homocysteine levels. We all have 2 MTHFR genes, one inherited from each parent. Some people have a genetic mutation in one or both of their MTHFR genes.
What is the prevalence of hyperhomocysteinemia in India?
In earlier reports, prevalence of hyperhomocysteinemia was found to be 84% in healthy Indian population living in urban north India [18]. Several studies reported that plasma tHcy levels increase with age, depending on nutritional and metabolic factors, and on changes in vitamin B12 absorption and renal excretion.
How common is the MTHFR gene mutation?
MTHFR gene polymorphisms are common worldwide, with an estimated 25 percent of Hispanics and 10 to 15 percent of North American whites having the 677C>T polymorphism in both copies of the gene. Most people with MTHFR gene polymorphisms do not have neural tube defects, and their children are also typically unaffected.
How is homocysteine inherited?
Inheritance. This condition is inherited in an autosomal recessive pattern , which means both copies of the gene in each cell have mutations. Most often, the parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but do not show signs and symptoms of the condition.
Is hyperhomocysteinemia a metabolic disorder?
Background: Hyperhomocysteinemia and the metabolic syndrome are established cardiovascular risk factors and are frequently associated with hypertension. The relationship of plasma homocysteine (Hcy) with the metabolic syndrome and insulin resistance, however, is debated and studies in hypertensive patients are limited.
Does coffee raise homocysteine levels?
Consumption of unfiltered or filtered coffee raises total homocysteine concentrations in healthy volunteers.
What percentage of the population has MTHFR?
MTHFR variants are found in people worldwide. In the United States, about 1 in 3 people have at least one MTHFR variant and 1 in 10 people have variants in both copies of the MTHFR gene.
Does MTHFR run in families?
People inherit one copy of the MTHFR gene from each of their parents, which means that everyone has two MTHFR genes. Mutations can occur in one or both of these genes. Having a parent or close relative with an MTHFR gene mutation can increase a person’s risk of inheriting the same variant themselves.
What percentage of population has MTHFR mutation?
What is hyperhomocysteinemia?
Hyperhomocysteinemia is a state in which too much homocysteine is present in the body. The main cause of hyperhomocysteinemia is a dysfunction of enzymes and cofactors associated with the process of homocysteine biosynthesis.
Is hyperhomocysteinemia an independent risk factor for cardiovascular disease?
Numerous epidemiological reports have established hyperhomocysteinemia as an independent risk factor for cardiovascular disease, cerebrovascular disease, dementia-type disorders, and osteoporosis-associated fractures.
What is the PMC for moderate hyperhomocyst (E) inemia?
PMC 3310006. PMID 22470444. ^ Kang, S. S.; Wong, P. W. (1996-01-26). “Genetic and nongenetic factors for moderate hyperhomocyst (e)inemia”. Atherosclerosis. 119 (2): 135–138. doi: 10.1016/0021-9150 (95)05648-3. ISSN 0021-9150. PMID 8808490.
How is hyperhomocysteinemia (high homocysteine) treated?
Regardless of etiology, most patients with hyperhomocysteinemia respond to multivitamin treatment. Folic acid is the most effective therapy and will reduce homocysteine levels even when patients are not obviously folate deficient.