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

Rev Med Chil. 1992 Sep;120(9):1022-6.
[Article in Spanish]

Abstract

A screening program for the early diagnosis of phenylketonuria was initiated 24 months ago in the Servicio de Salud Metropolitano Central. Since then, 2 cases with phenylketonuria have been early diagnosed. These patients started their nutritional treatment, consisting of a phenylalanine restricted diet at 14 and 17 days of age. The children are submitted to periodic medical, anthropometric, neurologic, biochemical and psychometric analysis. With a strict control they maintain phenylalanine plasma levels between 2 and 6 mg%. Both patients have a normal psychomotor development at 4.5 and 6.5 months of age and an anthropometric development at p50 of NCHS.

Publication types

  • English Abstract

MeSH terms

  • Female
  • Follow-Up Studies
  • Humans
  • Infant
  • Infant, Newborn
  • Male
  • Phenylketonurias / diet therapy
  • Phenylketonurias / physiopathology
  • Phenylketonurias / prevention & control*