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The study aims to explore the relationship between genetic factors, homocysteine levels, and late autism diagnosis.

Genetic predisposition and the role of homocysteine in a female with late diagnosis of autism

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The study aims to explore the relationship between genetic factors, homocysteine levels, and late autism diagnosis.
Reported case of a 27-year-old woman diagnosed with ASD in adulthood.
Analyzed homozygosity for the MTHFR C677T polymorphism.
Monitored blood levels of homocysteine and dietary changes.
Assessed changes in social interaction symptoms.
Elevated homocysteine levels were found due to the MTHFR C677T polymorphism.
Following normalization of homocysteine levels, improvements in social interaction symptoms were observed.
The case suggests a link between dietary changes and ASD symptoms.

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A case report reveals the impact of homocysteine on autism symptoms in an adult woman, suggesting environmental and genetic interactions.

Zografakis et al. (2025) studied this question.

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