Role of carglumic acid in the long-term management of propionic and methylmalonic acidurias

Abstract Propionic aciduria (PA) and methylmalonic aciduria (MMA) are rare inherited disorders caused by defects in the propionate metabolic pathway. PA due to propionyl coenzyme A carboxylase deficiency results in accumulation of propionic acid, while in MMA, deficiency in methylmalonyl coenzyme A...

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Bibliographic Details

Published in:	Orphanet Journal of Rare Diseases
Main Authors:	Sufin Yap, Serena Gasperini, Shirou Matsumoto, François Feillet
Format:	Article
Language:	English
Published:	BMC 2024-12-01
Subjects:	Carglumic acid Expert opinion Long-term management Methylmalonic aciduria Propionic aciduria
Online Access:	https://doi.org/10.1186/s13023-024-03468-4