• Jaume Campistol, María Julieta González, Alfonso Pablo Gutiérrez, María Antònia Vilaseca, and Grupo Colaborativo de Unidades de Seguimiento Españolas.
• Servicio de Neurología, Hospital Sant Joan de Déu, Universitat de Barcelona, Esplugues, Barcelona, Spain. campistol@hsjdbcn.org
• Med Clin (Barc). 2012 Mar 3; 138 (5): 185191185-91.

Background And ObjectiveTo evaluate the management of phenylketonuria (PKU) in Spanish metabolic units and to develop a patients registry.Patients And MethodsPKU patients diagnosed and/or followed up in Spain, with phenylalanine values before treatment > 360 μmol/L. Registered anonymous data are those yielded by the units during 2010.ResultsData from the 18 Spanish Follow-up Units were collected. Eighty-three per cent of Units are multidisciplinary, all of them corresponding to control patients of all ages, with uniform management criteria. Data of 688 PKU patients were registered (median: 14 years [1 month-53 years], 41.5% are presently > 18-year-old. 71.8% patients came from neonatal screening; 15.8% have mild-PKU, 26% moderate-PKU and 51.5% classic-PKU. 78.6% patients are treated with protein-restricted diet, 9.3% with BH4 and free diet and 7.8% with BH4 and diet. Dietary control was good in 58.6% patients, intermediate in 26% and poor in 15.3%. Median (range) intellectual quotients was 97 (25-145). The number of neurological complications in late diagnosed patients was three-times higher than those of neonatal screening patients. 13.3% of adults had university studies and 37.5% had a stable couple.ConclusionsThis study allows for the first time the evaluation of the PKU management by Spanish PKU Follow-up Units, as well as the analysis and registry of controlled PKU patients. The study makes evident the need of adult Follow-up Units and the importance of neonatal screening for PKU patients prognosis.Copyright © 2011 Elsevier España, S.L. All rights reserved.

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