Abnormalities impacting the MTHFR gene can have serious health impacts on those stricken with such anomalies. Therefore, parents are strongly encouraged to get their children tested for this issue.

What Is The MTHFR Gene

MTHFR is an abbreviation for the Methylenetrahydrofolate reductase is an enzyme necessary to assist the body in the metabolizing of homocysteine, an amino acid. Amino acids are vital nutrients the body requires to create proteins, which are crucial for supplying pertinent bodily systems with energy and performing other critical functions.

The Genetic Disorder

Every person is born with two genes that are needed to create MTHFR. One gene is supplied by each parent. Unfortunately, however, these genes can develop abnormalities that might precipitate genetic mutations. These genetic deformities could result in health problems that might begin striking impacted individuals during childhood and continue throughout their lives.

Diagnosing The Genetic Flaw In Young People

Typically, both MTHFR genes will be flawed for an individual to experience health manifestations. So, if both parents of one or more children know they have these mutations, have experienced or are currently dealing with mutation-related illness, ensuring their children get tested for the genetic abnormality as soon as possible could be the difference between life and death.

The MTHFR Mutation Test

During this test, a healthcare professional will draw a small amount of blood and insert the sample into a vile. Usually, the sample is taken from a vein the arm. However, when administered to newborns, blood is extracted from the heels of said individuals. Once the sample is collected, it is brought to a laboratory for analysis.

If the test results return negative the individual in question does not possess any MTHFR genetic flaws. Should the results prove positive, test results can usually show the specific variations the person possesses.

The Reason Early Diagnosis Is Important

The bloodstreams of those with these genetic discrepancies typically contain excessive concentrations of homocysteine. This issue can precipitate numerous health issues in it of itself. However, elevated homocysteine levels can reduce the systemic amounts of certain vital nutrients, especially folate. Said nutrient deficiencies can also precipitate potentially serious medical concerns. Ergo, early diagnosis is key to initiating treatment protocols designed to prevent associated complications.

MTHFR Symptoms

If left unchecked or undiagnosed, high homocysteine concentrations can elicit a plethora of mthfr symptoms that can impact numerous bodily regions. Specific symptoms include cardiovascular problems like an increased risk for heart attacks, strokes and blood clots, mental disorders, such as anxiety, depression, schizophrenia and bipolar disease, generalized body issues like migraines, joint and nerve pain, balance issues and the increased chance of developing malignancies like leukemia and colon cancer.

The MTHFR mutation is also thought to precipitate pregnancy complications and increase the risk of delivering a child born with specific birth defects. The illness might cause miscarriages and lead to congenital issues like spina bifida and anencephaly.

Potential Treatment Options

Merely being diagnosed with a genetic mutation does not automatically guarantee that one will experience symptoms. Manifestations usually occur when homocysteine levels reach significantly high levels. Specific symptoms can be treated in accordance with their presence and severity.

Additionally, there are other potentially serious conditions that could also precipitate elevated homocysteine concentrations, such as elevated blood pressure, high cholesterol levels, metabolic disorders like diabetes and hypothyroidism. obesity, poor lifestyle choices like a lack of exercise and certain medications.

In adults with uncomplicated presentations of elevated homocysteine levels, said individuals might lower such measurements by partaking in actions like the cessation of smoking, remaining or becoming physically active and consuming a balanced diet.

Precautions Parents Of Children With MTHFR Mutation Should Take

Parents of children diagnosed with this genetic flaw are advised to quickly commence actions geared towards lessening systemic levels of homocysteine. Such activities include ensuring they get routine exercise, consume a large number of fruits and vegetables and, if necessary, ingest dietary supplements containing nutrients like folate, choline, and components of the Vitamin B complex as blood levels of these nutrients are often reduced in the presence of elevated homocysteine amounts.

The MTHFR genetic mutation has the potential to cause serious problems. However, parents who get their children tested and diagnosed can employ measures that should prevent the development of any notable symptoms or potential complications.

About the author

Samantha Higgins

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