[Early diagnosis of phenylketonuria. Follow up of 2 cases].
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.
Raimann
E
E
Unidad de Neuropsicología, Instituto de Nutrición y Tecnología de los Alimentos (INTA), Universidad de Chile.
Cornejo
V
V
Perales
C G
CG
Barros
T
T
Moraga
M
M
Colombo
M
M
D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D010661:Phenylketonurias / Q000178:diet therapy / Q000503:physiopathology / Q000517:prevention & control*
Diagnostico precoz de fenilquetonuria. Seguimiento de 2 casos.