Volumen 32 No. 1 (2014)

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Manifestaciones neurológicas en pacientes pediátricos con fenilcetonuria. Revisión bibliográfica
(Universidad de Cuenca. Facultad de Ciencias Médicas, 2014-04) Calle Ulloa, Boris Eduardo; Calle S., Angel; Quito C., Paúl; Chasi P., María; Hurtado M., Johanna
Phenylketonuria (PKU) is a congenital autosomal recessive disease in which there is a shortage of the enzyme phenylalanine hydroxylase, which produces an injury to the central nervous system (CNS). The global incidence is about 1:20,000 live newborns. (1.2) The treatment is based on phenylalanine restricted diet which should be maintained for lifelong to prevent intellectual impairment. OBJECTIVE: To identify neurological manifestations of pediatric patients with PKU. METHODOLOGY: A review of the literature on the neurological manifestations for PKU by searching several electronic databases (MEDLINE , EMBASE, Cochrane , LILACS , PubMed) with English and Spanish limits from January 1970-2012. RESULTS: One cross-sectional study, one clinical case, three narrative reviews in pediatric populations and one clinical case combine children and adults. Intellectual disability is the main neurological manifestation; the primary diagnostic criterion was the serum level of phenylalanine. There are 29 different classifications on the cutoff to hyperphenylalaninemia and 23 for phenylketonuria.