[Source:  Science Daily]

Scientists appear to have solved a decades-long mystery regarding the precise biochemical pathway leading to a fatal genetic disorder in children that results in seizures, developmental regression and death, usually around age 3. Studying a mouse model with the same human illness — called Krabbe disease — the researchers also identified a possible therapeutic strategy.

The research is published Sept. 16 in the Proceedings of the National Academy of Sciences.

Patients with infantile globoid cell leukodystrophy, also known as Krabbe disease, gradually lose the protective covering that insulates axons, the wiring of the nervous system. The rare condition — affecting about 1 in 100,000 births — is typically diagnosed before age 1 and progresses rapidly.

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