Neurodevelopmental Profile of Children With MARS1-Related Pulmonary Alveolar Proteinosis: A Cohort Study.

Phenotypic expansion of *MARS1*-related disease: neurodevelopmental profile

This cohort study in the American Journal of Medical Genetics characterizes the neurodevelopmental profile of children with MARS1-related pulmonary alveolar proteinosis. While pulmonary manifestations are well-recognized and respond to high-dose methionine supplementation, neurodevelopmental involvement was poorly described. The authors document the frequency and nature of neurodevelopmental deficits.

Synthesis written by Geno'X. For the full original abstract, please refer to the source publication.

MARS1-related disease illustrates how a condition initially described by its organ manifestations can reveal a more complex systemic phenotype over time, justifying systematic neurodevelopmental monitoring.

Clinical impact: 2/3 · Evidence strength: 2/3 · Novelty: 1/2 · Sample size: 1/1 · Publication status: 1/1 → Total: 7/10