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Genetic and Rare Diseases Information Center (GARD)

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Homocysteinemia due to MTHFR deficiency


Other Names for this Disease

  • 5,10 alpha methylenetetrahydro-folate reductase deficiency
  • 5,10-alpha-methylenetetrahydro-folate reductase deficiency
  • Homocysteinemia due to methylenetetrahydro-folate reductase deficiency
  • Homocysteinuria due to methylenetetrahydro-folate reductase deficiency
  • Homocysteinuria due to MTHFR deficiency
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Symptoms

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What are the signs and symptoms of homocysteinemia due to MTHFR deficiency?

Symptoms of MTHFR deficiency vary from no symptoms to severe neurologic and blood vessel disease. Health problems tend not to be related to whether someone has a MTHFR gene mutation or even a MTHFR enzyme deficiency, but whether the deficiency is leading to elevated levels of homocysteine in the blood or urine.[1] Elevated levels of homocysteine in the blood can damage the lining of the arteries, which increases the risk of heart disease, including coronary heart disease, and stroke in adults. However, there are many other factors that play a part in determining a person’s risk of heart disease and stroke.[2] And many people with a homocysteinemia may never have any symptoms or adverse complications.[2]

High homocysteine levels in the blood may also increase the risk of preeclampsia, miscarriage, and blood clots. In general, mild to moderate homocysteinemia has been associated with an increase risk developing blood clots in the veins often in the lower leg or calf, which can travel to the lung (i.e., pulmonary embolism). [3]
Last updated: 7/20/2011

The Human Phenotype Ontology provides the following list of signs and symptoms for Homocysteinemia due to MTHFR deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms.

Signs and Symptoms Approximate number of patients (when available)
Autosomal recessive inheritance -
Behavioral abnormality -
Gait disturbance -
Homocystinuria -
Hyperhomocystinemia -
Incoordination -
Microcephaly -
Muscle weakness -
Paresthesia -
Seizures -
Stroke -

Last updated: 9/2/2014

The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature.

The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined.

Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


References
  1. Homocystinuria. Genetics Home Reference (GHR). 2008; http://www.ghr.nlm.nih.gov/condition=homocystinuria. Accessed 3/16/2011.
  2. MTHFR. Genetics Home Reference (GHR). Februrary 2011; http://ghr.nlm.nih.gov/gene/MTHFR. Accessed 7/14/2011.
  3. Homocysteine. American Academy of Family Physicians. 2006; http://familydoctor.org/online/famdocen/home/articles/249.html. Accessed 5/13/2009.


Other Names for this Disease
  • 5,10 alpha methylenetetrahydro-folate reductase deficiency
  • 5,10-alpha-methylenetetrahydro-folate reductase deficiency
  • Homocysteinemia due to methylenetetrahydro-folate reductase deficiency
  • Homocysteinuria due to methylenetetrahydro-folate reductase deficiency
  • Homocysteinuria due to MTHFR deficiency
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.