OUR EXPERIENCE IN THE MANAGEMENT OF PREGNANCY IN CASES DIAGNOSED WITH INHERITED METABOLIC DISORDERS
SSIEM 2026 ANNUAL SYMPOSIUM: NEXT GENERATİON METABOLİC MEDICINE, Helsinki, Finlandiya, 25 - 28 Ağustos 2026, cilt.49, ss.147, (Özet Bildiri)
- Yayın Türü: Bildiri / Özet Bildiri
- Cilt numarası: 49
- Doi Numarası: 10.1002/jimd.70230
- Basıldığı Şehir: Helsinki
- Basıldığı Ülke: Finlandiya
- Sayfa Sayıları: ss.147
- Dokuz Eylül Üniversitesi Adresli: Evet
Özet
Our experience in the management of pregnancy in cases diagnosed with inherited metabolic disorders
Gülşah Ortan Efe1, Pelin Teke Kısa1, Sevil Yıldız2, Merve Bilen1, Duygu Uzun Dinçtürk1, Emine Didem Demirdöken1, Melis Kırmızıtaş1, Esra Er3, İbrahim Can Güner4, İbrahim Yalçın4, Erkan Çağlıyan4, Nur Arslan1
1Dokuz Eylul University, Division of Inherited Metabolic Diseases, Izmir
2 Bursa Yuksek Ihtisas Training and Research Hospital, Division of Inherited Metabolic Diseases, Bursa
3 Dr. Behçet Uz Children’s Diseases and Surgery Training and Research Hospital, Division of Inherited Metabolic Diseases,Izmir
4Dokuz Eylul University, Department of Obstetrics and Gynecology, Izmir
Background:
Women with inherited metabolic disorders (IMDs) encounter unique metabolic and obstetric challenges during pregnancy, necessitating comprehensive monitoring by a multidisciplinary team. However, existing research on pregnancy outcomes in women with IMDs is predominantly limited to case series focusing on specific conditions, with comprehensive evaluations being infrequent. This study aimed to assess the perinatological course of pregnancies in women with IMDs and to investigate the obstetric impact of maternal metabolic disease.
Methods:
The medical records of reproductive-age women with a history of pregnancy between 2000 and 2025 were retrospectively reviewed. Patients were divided into three groups based on the timing of diagnosis: pre-pregnancy, during pregnancy, and post-pregnancy. Detailed data on the subtype of IMD, timing of diagnosis, gravidity, parity, abortus, maternal and neonatal complications, and treatment management were systematically documented and analyzed.
Results:
Twenty-three patients were included: 47.8% had amino acid metabolism disorders, 34.8% lysosomal storage diseases, 8% vitamin disorder defects (coenzyme Q deficiency, severe biotinidase deficiency), and the remainder had other IMDs (acute porphyria, fatty acid disorder). Thirteen (56.5%) were diagnosed preconceptionally, one (4.3%) during pregnancy after metabolic decompensation, and nine (39.1%) post-pregnancy. Among 36 pregnancies, the mean maternal age was 27.7±6.6 years. Four miscarriages occurred in three patients with aminoacid disorders, mainly linked to poor dietary compliance or diagnosis after conception. IMD-related symptoms worsened or appeared during pregnancy/postpartum in six patients (26%), with three requiring hospitalization (fatty acid disorder, acut porfiria, glutaric aciduria). Thirty-one pregnancies resulted in live births. Mean gestational age at delivery was 38±2 weeks, and mean birth weight was 3026±597 g. Complications were more frequent in amino acid metabolism disorders, while none were observed in lysosomal storage diseases.
Conclusion:
Early diagnosis and coordinated care reduce obstetric and neonatal complications, particularly in higher-risk amino acid metabolism disorders. Comprehensive preconception counseling and continuous monitoring improve maternal metabolic control, enhancing pregnancy outcomes and minimizing adverse events such as miscarriages and metabolic decompensation. These results underscore the need for increased awareness and structured follow-up protocols to support women with IMDs throughout their reproductive years.
Keywords: Pregnancy management, Inherited metabolic disorders, Metabolic decompensation, Maternal disease