Case Report: Persistent isolated hyperhomocysteinemia in an adolescent with celiac disease and homozygous MTHFR c.665C>T polymorphism: a multifactorial disturbance of one-carbon metabolism.

Persistent hyperhomocysteinemia in an adolescent with celiac disease and homozygous MTHFR c.665C>T polymorphism was significantly reduced by targeted vitamin therapy.

• Why it matters: Understanding the causes of elevated homocysteine beyond classical metabolic disorders is crucial, especially when common genetic variants and nutritional factors interact, affecting health outcomes.
• What they did: The case involved an 18-year-old male with complex health conditions, extensive genetic testing, and trials of various treatments, revealing that gene-nutrient interactions contributed to his condition.
• The result: Targeted methylfolate and vitamin B12 supplementation lowered homocysteine levels substantially, highlighting the importance of personalized therapy based on genetic and nutritional insights.