Successful Pregnancy Management of a Woman With Severe Methylmalonic Acidemia

Successful Pregnancy Management of a Woman With Severe Methylmalonic Acidemia

ABSTRACT Isolated methylmalonic acidemia (MMA) is a rare, genetically heterogeneous group of metabolic disorders resulting from a deficiency of the enzyme methylmalonyl‐CoA mutase (MMUT), defects in the metabolism of its cofactor, adenosylcobalamin, or deficiency of the enzyme methylmalonyl‐CoA epim...

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Main Authors: M. Woidy, K. Tsiakas, M. Mahmud, G. Eich, S. Loos, J. Lisfeld, S. Schultz, A. C. Tallarek, K. Hecher, T. B. Huber, A. C. Muntau, G. Gramer
Format: Article
Language:English
Published: Wiley 2025-05-01
Series:JIMD Reports
Subjects:
chronic kidney disease
interdisciplinary management
pregnancy
severe methylmalonic acidemia
Online Access:https://doi.org/10.1002/jmd2.70009
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