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Parenteral nutrition in a premature infant with phenylketonuria
Insights
Parenteral nutrition (PN) in premature infants with phenylketonuria (PKU) appears safe despite high phenylalanine levels. Long-term PN may require phenylalanine-free amino acid solutions for PKU management.
Area of Science:
- Neonatal Medicine
- Metabolic Disorders
- Nutritional Support
Background:
- Parenteral nutrition (PN) is crucial for extremely premature infants.
- Its impact on inherited metabolic diseases, like phenylketonuria (PKU), is not well-documented.
Observation:
- A case of classical PKU in a premature infant on PN is presented.
- The infant exhibited significantly elevated serum phenylalanine levels during the initial weeks of life.
- Delayed PKU identification occurred due to underestimating the phenylalanine load from PN.
Findings:
- Despite initial high phenylalanine levels, the infant showed normal mental and motor development at 16 months.
- The infant demonstrated a relatively high phenylalanine tolerance on oral feeds later in life.
Implications:
- Parenteral nutrition may be relatively safe for premature infants with PKU.
- Consideration of phenylalanine-free amino acid infusates is recommended for long-term PN in these patients.
- Highlights the importance of recognizing PN as a phenylalanine source in PKU management.
Abstract:
Parenteral nutrition (PN) is now an important facet of the management of the extremely premature infant. However, its effects on those with inherited metabolic disease have not been well documented. We report an infant with classical phenylketonuria (PKU) who had unusually high serum phenylalanine at 12 days of life (5200 mumol; greater than 3.2 SD above our mean for PKU at 10-15 days of age) while on parenteral nutrition, despite a relatively high tolerance for phenylalanine on oral feeds at 3-4 months of life (97-128 mg/kg/day; normal for PKU: less than 90 mg/kg/day). Identification of PKU was somewhat delayed in this child because of failure to recognize that parenteral nutrition provides a phenylalanine load equivalent to or greater than the routine oral formula feeding. Despite the high levels of phenylalanine in the first 2 wk of life, mental and motor development are normal at 16 months of age. This case, the first such reported, suggests the parenteral nutrition in the premature PKU infant is relatively safe, but draws attention to the possible need for phenylalanine-free amino acid infusates for those who require long-term treatment.