Successful Pregnancy Management of a Woman With Severe Methylmalonic Acidemia

• DOI: 10.1002/jmd2.70009
• Publication Date: 2025-05-13T06:44:03Z
• 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
• Keywords: Methylmalonic acidemia; Renal replacement therapy

ABSTRACT Isolated methylmalonic acidemia (MMA) is a rare, genetically heterogeneous group of metabolic disorders resulting from deficiency the enzyme methylmalonyl‐CoA mutase (MMUT), defects in metabolism its cofactor, adenosylcobalamin, or epimerase. With improved awareness, earlier diagnosis, and advances care, women with MMA are increasingly reaching childbearing age, successful pregnancies have been documented patients milder forms disease. This report details, for first time, management outcomes pregnancy woman severe mut 0 concomitant advanced chronic kidney disease (CKD) progressing to end‐stage renal (ESRD) requiring initiation hemodialysis at 21 weeks' gestation. At 20 weeks, fetal ultrasound revealed growth restriction (FGR), necessitating close monitoring dietary adjustments meet patient's increased nutritional needs. Despite these challenges, she remained metabolically stable until delivery. 35 delivered 1.64 kg male SGA newborn via cesarean section. The presented mild retrognathia, soft palate cleft, hypospadias, ventriculomegaly, hypoplasia corpus callosum cerebellum without need immediate intervention. mother experienced decompensation on fifth postpartum day, which was promptly managed by additional replacement therapy. 3 months postpartum, both child were doing well, no further complications observed. case demonstrates that challenging requires interdisciplinary but can be carried out favorable outcome.