Abstract
Phenylketonuria is an inborn error of metabolism with serious neurological and systemic repercussions, if it is not detected before the first month of life. The implementation of metabolic screening in the neonatal stage, constitutes an economic, simple and not invasive tool that allows suspecting at least if a child is born with this pathology.
This paper article shows evidence of the neurological damage of a child with late diagnosis of Phenylketonuria (PKU) in “Rosario” Institute Foundation in Cartagena - Colombia, for children with mental delay.
This child had a neurodevelopment according to his age up to seven months; time in which epileptic seazures appeared and an epileptic progressive encephalopathy with poor response to antiepileptics was installed.
It was practiced a CAT (TC), which did not show structural damage. The seazures stopped at the age of four, nevertheless, the patient stayed with motor and psychic sequels. Only up to eight years, after a (MRI), it was decided to perform a metabolic screening in serum and urine. The results orientated us to request more specific tests, which allowed to quantify the increase in plasma of the phenylalanine amino acid and to confirm the diagnosis.
It is of highlighting that the accomplishment of a screening metabolic in the neonatal stage or at the moment of the appearance of the had allowed us affecting favourably the course of this disease, avoiding the neurological damage by means of the establishment of a diet free of the phenylalanine in early stages of the development.
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