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October 3, 2025Frontiers in NeurologyOpen Access

Retrospective analysis of diagnosis and treatment in 9 cases of childhood-onset methylmalonic acidemia in China

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Retrospective analysis reveals non-specific symptoms in childhood-onset methylmalonic acidemia, highlighting treatment challenges.

Early-onset methylmalonic acidemia is more prevalent, and patients exhibit varied neurological symptoms.
Nine children were evaluated, with an age range from 1 month to 8 years, highlighting significant diagnostic delays.
Treatment involved vitamin B12 and L-carnitine; seven patients had favorable outcomes while two faced severe complications.
The study emphasizes the need for genetic analysis and metabolic testing to enhance diagnostic accuracy of methylmalonic acidemia.

Fan et al. (2025) studied this question.

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