Care model for patients with phenylketonuria (PKU) in Argentina

Abstract

Argentinean hyperphenylalaninemia newborn screening program was initiated by the Infantile Endocrinology Foundation in 1985. At the present it coexists with other several public health programs. To date phenylketonuria (PKU) incidence is 1:12,000 living newborns out of 1,300,000 subjects tested. Nutritional treatment consists of a diet restricted in phenylanine (Phe) and free of animal food, it is started in all children whose serum Phe levels are above 6 mg/dL, low tyrosine (Tyr) concentration, and a Phe to Tyr ratio >3, although patients between 2 to 6 mg/dL are closely followed. Periodic blood Phe quantification and dietetic instructions to the patient are required in order to keep Phe levels in a safe range that preserves nervous system maturing, and prevention of mental retardation which is inherent to non-treated disease. Educational activities constitute the core of the teamwork; they are destined to achieve the best psycho-social integration of the patient to society. Patients’ mothers are trained to follow dietetic quantities of Phe following the “Practical guidance for phenylketonuric patients’ nutrition”. Diet compliance is a complex process which should be evaluated in individual and familiar context in order to identify the need for extra medical support; adolescents are the most vulnerable age population. It has been noted that late diagnosed patients who were given the adequate proposed treatment improved in terms of neurological symptoms, behavioral issues as well as in their potential for rehabilitation.

Keywords

• Hiperfenilalaninemia
• PKU
• tratamiento dietético
• tirosina
• sintomatología neurológica