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[Early diagnosis of phenylketonuria. Follow up of 2 cases]

E Raimann1, V Cornejo, C G Perales

  • 1Unidad de Neuropsicología, Instituto de Nutrición y Tecnología de los Alimentos (INTA), Universidad de Chile.

Revista Medica De Chile
|September 1, 1992
PubMed

Insights

Early diagnosis and treatment of phenylketonuria (PKU) through a screening program led to normal psychomotor and anthropometric development in two infants. This highlights the effectiveness of timely intervention for PKU management.

Area of Science:

  • Medical screening programs
  • Pediatric metabolic disorders
  • Newborn health

Context:

  • Phenylketonuria (PKU) is a genetic disorder.
  • Early diagnosis is crucial for preventing severe health issues.
  • A screening program was implemented in the Servicio de Salud Metropolitano Central.

Purpose:

  • To evaluate the effectiveness of a newborn screening program for phenylketonuria.
  • To report on the early diagnosis and management of PKU cases.
  • To assess the developmental outcomes of treated infants.

Summary:

  • The screening program identified two cases of phenylketonuria within 24 months.
  • Affected infants initiated a phenylalanine-restricted diet at 14 and 17 days of age.
  • Ongoing monitoring includes medical, biochemical, and psychometric analyses, maintaining plasma phenylalanine levels between 2-6 mg%.

Impact:

  • Early diagnosis and treatment resulted in normal psychomotor development at 4.5 and 6.5 months.
  • Anthropometric development is at the 50th percentile (p50) of NCHS standards.
  • Demonstrates successful PKU management through early intervention and dietary control.

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