Pregnancy complicated by maternal phenylketonuria

Area of Science:

• Metabolic disorders
• Maternal-fetal medicine
• Developmental pediatrics

Background:

• Elevated serum phenylalanine in pregnant women is linked to adverse fetal outcomes, including spontaneous abortion and congenital anomalies.
• These outcomes include cardiac defects, growth retardation, microcephaly, and mental retardation.

Purpose of the Study:

• To evaluate the effectiveness of dietary management in controlling serum phenylalanine levels during pregnancy.
• To assess the impact of controlled phenylalanine levels on perinatal and long-term infant outcomes.

Main Methods:

• Nine pregnancies in 7 women with phenylketonuria (PKU) were managed with dietary interventions.
• Serum phenylalanine levels were monitored, and outcomes for offspring were assessed through follow-up.

Main Results:

• Satisfactory serum phenylalanine control (<600 umol/l) was achieved in 6 patients, resulting in 6 normal offspring.
• Offspring of a poorly controlled mother (due to non-compliance) had low birth weight and microcephaly.
• Follow-up ranged from 1 to 15 years.

Conclusions:

• Dietary control of serum phenylalanine levels below 600 umol/l in pregnant women with PKU is achievable and beneficial.
• Effective management can improve both perinatal and long-term outcomes for infants.
• Close collaboration among healthcare professionals and patient adherence are essential for successful management.