The MTHFR gene (methylenetetrahydrofolate reductase) is responsible for producing an enzyme that plays a crucial role in processing amino acids and converting homocysteine to methionine, an essential amino acid. This enzyme is important for:
1. **Folate Metabolism**: It helps convert dietary folate into its active form, which is vital for DNA synthesis and repair.
2. **Homocysteine Regulation**: Proper function of the MTHFR enzyme helps keep homocysteine levels in check. Elevated homocysteine is associated with various health risks, including cardiovascular diseases.
Mutations in the MTHFR gene, such as C677T and A1298C, can affect the enzyme's activity and may lead to an increased risk of certain health issues, including cardiovascular problems, neural tube defects during pregnancy, and other metabolic disorders. Genetic testing can determine if someone has these mutations, but not everyone with MTHFR mutations will experience health problems.
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ADHD-I(diagnosed) ASD-HF(diagnosed)
RDOS scores - Aspie score 131/200 - neurotypical score 69/200 - very likely Aspie