Medical management of Genetic Disorders

Isolated methylmalonic acidemia (MUT, CblA, CblB, CblD-MMA)

Forny et al., 2021 - European guideline of methylmalonic and propionic acidemia. Includes acute management and long-term follow-up. Review of the original 2014 protocol

Haijes et al., 2019 - A review of treatment strategies for methylmalonic and propionic acidemia.

BIMDG Paediatric MMA IV Protocol (PDF)

BIMDG Adult Guidelines (includes MMA IV protocol information)

New England Consortium

Filière G2M Emergency Protocol (Organic Acidurias - English PDF)

GeneReviews

E-IMD 


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