SNP Shot: Genomic Insights

Cerebral folate transport deficiency results from insufficient folate (vitamin B9) levels in the brain. Children with this condition initially develop normally but, typically around age 2, experience psychomotor regression, losing previously learned skills. They develop intellectual disability, speech impairments, and epilepsy (recurring seizures). Motor skills are significantly affected, leading to tremors and ataxia (poor coordination); some require wheelchair use. A characteristic feature is leukodystrophy, a degeneration of the brain's white matter. White matter, composed of myelin-covered nerve fibers, is essential for rapid nerve impulse transmission. The neurological issues associated with cerebral folate transport deficiency are linked to this leukodystrophy. Without intervention, these neurological problems progressively worsen.

Inheritance:

Cerebral folate transport deficiency follows an autosomal recessive inheritance pattern. This means that both copies of the relevant gene within an individual's cells must carry mutations for the condition to manifest. Individuals with only one copy of the mutated gene (carriers) are typically unaffected but can pass the mutated gene on to their children.