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Biochemical Monitoring and Management During Pregnancy in Patients with Isovaleric Acidaemia is Helpful to Prevent

D D J Habets1, N C Schaper, H Rogozinski

  • 1Laboratory of Biochemical Genetics, Department of Clinical Genetics, Maastricht University Medical Centre, Noordbuilding, P. Debyelaan 25, 6229 HX, Maastricht, The Netherlands, d.habets@mumc.nl.

JIMD Reports
|February 23, 2013
PubMed

Insights

Isovaleric acidemia (IVA) patients can now have successful pregnancies. Careful monitoring and management during pregnancy are crucial for preventing serious complications, even with varying treatment approaches.

Area of Science:

  • Biochemistry
  • Genetics
  • Maternal-Fetal Medicine

Background:

  • Improved neonatal screening and treatment allow isovaleric acidemia (IVA) patients to reach reproductive age.
  • Pregnancy in IVA patients presents challenges in maintaining metabolic stability for both mother and child.
  • Multidisciplinary care is essential for managing IVA during gestation.

Purpose of the Study:

  • To report on the outcomes of pregnancies in women with isovaleric acidemia (IVA).
  • To compare different management and monitoring strategies for maternal IVA during pregnancy.
  • To assess the safety and efficacy of interventions in IVA pregnancies.

Main Methods:

  • Case report of three women with IVA experiencing five pregnancies.
  • Comparison of metabolic profiles and clinical outcomes under contrasting management approaches.
  • Detailed monitoring included plasma acylcarnitine and amino acid profiles, dietary adjustments, L-carnitine and glycine supplementation, and intravenous glucose/L-carnitine during labor and postpartum.

Main Results:

  • All five pregnancies (including twin gestations) resulted in uncomplicated outcomes for both mother and child, despite varied monitoring intensity.
  • Strictly managed pregnancies with frequent metabolic profiling and interventions showed successful outcomes.
  • Less intensively monitored pregnancies also yielded favorable results, with interventions primarily during hyperemesis gravidarum.

Conclusions:

  • Pregnancy in IVA patients can be managed successfully with diverse monitoring and treatment strategies.
  • While favorable outcomes were observed even with less intensive management, proactive monitoring and management are recommended to prevent metabolic decompensation.
  • This highlights the importance of individualized care plans for pregnant individuals with IVA.

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