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

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