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[Phenylketonuria diagnosed during the neonatal period and breast feeding]

Verónica Cornejo1, Viviana Manríquez, Marta Colombo

  • 1Unidad de Nutrición Clínica, Universidad de Chile. vcornejo@inta.cl

Revista Medica De Chile
|January 28, 2004
PubMed

Insights

Early diagnosed phenylketonuria (PKU) children on a low phenylalanine diet, including breast milk, showed good metabolic control and improved growth. Breastfeeding supports healthy development in infants with PKU.

Area of Science:

  • Genetics and Metabolic Disorders
  • Pediatric Nutrition
  • Developmental Pediatrics

Context:

  • Phenylketonuria (PKU) is a genetic disorder characterized by hyperphenylalaninemia due to phenylalanine hydroxylase deficiency.
  • Effective management of PKU relies on a strict low-phenylalanine (Phe) diet.
  • Early diagnosis and intervention are crucial for preventing long-term complications.

Purpose:

  • To assess the outcomes of early-diagnosed PKU infants receiving direct breastfeeding alongside a specialized Phe-free formula.
  • To evaluate metabolic control, nutritional status, and psychomotor development during the first six months of life.

Summary:

  • Nineteen PKU infants diagnosed neonatally were studied for six months on a diet combining breastfeeding and Phe-free formula.
  • Excellent metabolic control (Phe < 8 mg/dl) was achieved in 15 infants; 4 had intermittent high levels.
  • At six months, 74% were breastfed exclusively for Phe intake, 63% had normal nutritional status, and 81% showed normal mental development.

Impact:

  • Direct breastfeeding, combined with a low-Phe diet, facilitates excellent metabolic control in early-diagnosed PKU infants.
  • This feeding strategy supports improved growth and psychomotor development in children with PKU.
  • Highlights the feasibility and benefits of integrating breastfeeding into PKU management protocols.
Abstract

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