Abstract：
BACKGROUND AND OBJECTIVE:To evaluate the management of phenylketonuria (PKU) in Spanish metabolic units and to develop a patients registry. PATIENTS AND METHODS:PKU 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. RESULTS:Data 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. CONCLUSIONS:This 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.
journal_name
Med Clin (Barc)journal_title
Medicina clinicaauthors
Campistol J,González MJ,Gutiérrez AP,Vilaseca MA,Grupo Colaborativo de Unidades de Seguimiento Españolas.doi
10.1016/j.medcli.2011.03.037subject
Has Abstractpub_date
2012-03-03 00:00:00pages
185-91issue
5eissn
0025-7753issn
1578-8989pii
S0025-7753(11)00655-5journal_volume
138pub_type
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