Breastfeeding in phenylketonuria.

Area of Science:

• Metabolic disorders
• Pediatric nutrition
• Genetics

Background:

• Classical phenylketonuria (PKU) is a rare genetic disorder.
• Early diagnosis and treatment are crucial for preventing neurological damage.
• Norway has a centralized treatment system for PKU infants.

Purpose of the Study:

• To evaluate the effectiveness of early dietary intervention in infants with classical phenylketonuria.
• To assess the impact of breastfeeding combined with a phenylalanine-free protein substitute on infant growth and development.
• To determine the time required for serum phenylalanine normalization.

Main Methods:

• Retrospective analysis of 83 infants diagnosed with classical PKU in Norway since 1979.
• Dietary treatment initiated between 5 and 33 days of age.
• Monitoring of serum phenylalanine levels and infant growth parameters (weight, length, head circumference).

Main Results:

• Seventy-four infants were breastfed with a phenylalanine-free protein substitute.
• Dietary treatment commenced at a mean age of 14 days.
• Serum phenylalanine normalization (below 400 pmol/l) achieved in a mean of 8 days.
• Breastfeeding duration averaged 7 months.
• Infant growth parameters remained within normal ranges.

Conclusions:

• Early initiation of dietary treatment for phenylketonuria is effective.
• Combined breastfeeding and phenylalanine-free protein substitute supports normal growth in PKU infants.
• Centralized treatment facilitates consistent management and monitoring.