Managing Pregnancy in Inherited Metabolic Disorders: Experience From a Single Tertiary Metabolic Center

Improved newborn screening and critical care allow more individuals with inherited metabolic disorders (IMDs) to survive to adulthood and reach reproductive age. However, given the rarity of these conditions, evidence on pregnancy management is limited and clinical practice is largely informed by case reports and expert opinions. This study aims to evaluate pregnancy outcomes and metabolic management strategies in women with IMDs, addressing a critical gap in evidence-based care for this unique and growing patient population.

This retrospective, single-center study included female patients aged 15-49 years with genetically confirmed IMDs who initiated treatment before conception and gave birth.

Seven pregnancies in six women were included. The median maternal age at conception was 29.0 years and the median gestational age of infants was 38.4 weeks. In two patients with glutaric aciduria type I, individualized peripartum management protocols were successfully implemented. Enzyme replacement therapy was continued without complications throughout pregnancy in the woman with Gaucher disease. A previously unreported congenital heart defect was detected in the infant of a mother with tyrosinemia type II. Notably, one patient with 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency, whose first pregnancy ended in a healthy birth despite peripartum metabolic instability, experienced fatal metabolic decompensation following a miscarriage in her second pregnancy.

These findings indicate that while successful pregnancies are possible, severe maternal complications and fetal anomalies can still occur. These observations highlight the urgent need for structured adult care pathways and disease-specific pregnancy management strategies as this population continues to grow.