Cobalamin-Related Remethylation Disorders: Pregnancy Outcomes and Prenatal Treatment-New Cases and a Literature Study.
Karolina M Stepien, Jolanta Sykut-Cegielska, Jennifer Sloan et al.
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Case in brief
This report details five women with cobalamin-related remethylation disorders (cbl-RD) who experienced nine pregnancies. All mothers received hydroxocobalamin treatment during pregnancy, with some also receiving betaine and carnitine. Despite complications such as preterm deliveries, all offspring had favorable outcomes. Prenatally treated fetuses exhibited attenuated phenotypes, and infants with severe MMACHC variants showed normal neurodevelopment up to age 2-3 years.
Diagnostic / clinical pearl
Prenatal treatment with hydroxocobalamin in pregnancies affected by cbl-RD can lead to improved outcomes and reduced complications in offspring.
Why it matters
This case underscores the importance of early diagnosis and treatment in managing cbl-RD during pregnancy, potentially preventing severe neurodevelopmental and ophthalmic issues.