Abstract

DE LUCCA, Marisel; BARBA-GUZMAN, Carmen; COBO-SEVILLA, Verónica  and  LATTA, María Augusta. Phenylketonuria of late diagnosis and associated mutations in an Ecuadorian family. Invest. clín [online]. 2017, vol.58, n.3, pp.274-283. ISSN 0535-5133.

Phenylketonuria is an inborn error of metabolism due to mutations on the phenylalanine hydroxylase gene. We described the case of a 15 years old-adolescent with late diagnosis of phenylketonuria, who presents severe mental retardation, convulsions and hypopigmentation. In this study, the molecular diagnosis of phenylketonuria was performed, detecting p.R252W mutation in homozygous state on the phenylalanine hydroxylase gene. The presence of this variant allowed us to infer the lack of response to drug therapy with sapropterina which works as an enzyme cofactor, due to the absence of residual enzymatic activity reported for the p.R252W variant. Physical therapy was applied through playful therapy and muscular strengthening, because of the psychomotor retardation present in the patient. The failing in continuing with the physical therapy program stopped the patient´s improvement.

Keywords : phenylketonuria; phenylalanine hydroxylase; mutation R252W; physical therapy.

        · abstract in Spanish     · text in Spanish     · Spanish ( pdf )