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September 10, 2025

Clinical and genetic analysis of 658 children with repeat hospitalization for methylmalonic aciduria from central China: a single-center retrospective study

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Retrospective analysis reveals genetic mutations and hospitalization trends in children, indicating the need for early screening.

Repeated hospitalizations occurred in 46.96% of pediatric patients with methylmalonic acidemia.
Genetic testing identified mutations primarily in the MMACHC and MMUT genes associated with the disorder.
The study included 658 pediatric patients from Henan Province, emphasizing geographic clustering in incidence rates.
Clinical manifestations were diverse, including movement disorders, dystonia, vomiting, and respiratory distress.

Zhao et al. (2025) studied this question.

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