Abstract

ALVAREZ PANEQUE, Osmany et al. Assessment of the health status of patients with phenylketonuria. Rev Cubana Pediatr [online]. 2013, vol.85, n.3, pp. 320-329. ISSN 0034-7531.

Introduction: phenylketonuria is the most recognized congenital metabolic error. Its early detection and low phwnylalanine diet can prevent mental retardation in these patients. Objective: to evaluate the impact of the early phenylketonuria prevention program in Holguin province from January 1986 to October 2012. Methods: a retrospective descriptive study was made in children who were assisted at the phenylketonuria department of pediatric hospital in Holguin province. The universe of study was 12 patients diagnosed with phenylketonuria. The medical histories provided the necessary information. The metabolic control was evaluated through the serum phanylalanin figures recorded in the medical history, the nutritional status was assessed according to the percentile rates set in Cuba and the intellect coefficient was analyzed with psychometric tests. Results: in this group, 66.6 % (8 patients) presented good metabolic control and 58.3 % (7) showed normal intellect. Of the patients diagnosed with the disease before 1986, three (42.9 %) suffered mild mental retardation and two (28.6 %) were disabled. All the patients diagnosed by this program showed normal intellect and 5 had no symptoms. Four were studying for 80 %. Of the studied patients, 83.3 % (10) were eutrophic. Conclusions: the early diagnosis program has allowed the significant improvement of the health status of the phenylketonuric patients, with stable metabolic control and noticeable integration to the society.

Keywords : phenylketonuria; aminoacidopathy; metabolism.

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