Folate cycle disorders are among the most common causes of metabolic disturbances that can affect the development of the nervous system, immune function, and the functioning of the entire body. In children, these changes often present with speech delay, developmental disorders, autism spectrum disorders (ASD), epilepsy, attention deficit disorder, behavioral abnormalities, and chronic fatigue.
At Vivere Clinic, we do not evaluate only a single gene or laboratory marker. We determine whether folate cycle disorders are clinically significant specifically for your child and how they affect their development.
Folate Cycle Disorders: What They Are and Why They Occur
The folate cycle is a system of biochemical reactions that provides methylation, DNA synthesis, neurotransmitter production, detoxification, and normal brain development.
The causes of its disruption may include:
- genetic variants of folate cycle enzymes;
- B-vitamin deficiency;
- cerebral folate deficiency;
- autoantibodies to the folate receptor (FRAT);
- mitochondrial dysfunction;
- chronic inflammatory and neuroimmune processes.
The best-known gene is MTHFR; however, it is only one of many genes involved in this process. In clinical practice, we also evaluate other important folate cycle and methylation genes, including:
- MTHFR
- MTR
- MTRR
- BHMT
- CBS
- SHMT1
- MTHFD1
- FOLR1
- RFC
- DHFR
A comprehensive assessment of genetic variants makes it possible to understand which metabolic pathways are functioning insufficiently.
At Vivere Clinic, you can undergo comprehensive genetic testing of all major folate cycle genes, including MTHFR, RFC, BHMT, CBS, and other methylation-related genes.
