Resumen

GUTIERREZ GARCIA, Enna; BARRIOS GARCIA, Bárbara  y  NOEL TABOADA, Lugo. Valoración clínica, psicológica y de laboratorio a niños con hiperfenilalaninemia benigna al nacimiento. Rev Cubana Pediatr [online]. 2002, vol.74, n.4. ISSN 0034-7531.

Hyperphenylalaninemias, which are disorders in the metabolism of phenylalanine, show genetic, clinical and biochemical heterogeneity, with phenylalanine in plasma over 120 µmol/L (2 mg/dL). Benign hyperphenylalaninemia has values from 240 to 600 µmol/L (4 a 10 mg/dL) with higher enzymatic activity and does not require diet therapy. A clinical and lab assessment of 32 children with this disorder at birth was made from 1989 to 1999 to find out the variations in time of serum concentrations, occurrence of some clinical symptom or sign of the disease and their intelligence quotient. The 32 studied children presented with reduction of aminoacid levels of 90 to 287 µmol/L (1, 5 mg/dL a 5, 52 mg/dL) with respect to birth levels. The majority did not show clinical symptoms or signs of phenylketonuria. Average intelligence quotient was 100.6 points. It was recommended to study all the children suffering from this disease in Cuba and to carry out research studies of mutations to prove the allele heterogeneity that explains the variable expressiveness in the biochemical and clinical phenotype in these children.

Palabras clave : PHENYLKETONURIAS; PHENYLALANINE [analysis]; DIAGNOSIS, CLINICAL; CHILD; CHILD PSYCHOLOGY; CHILD DEVELOPMENT.