Endocrine Abstracts

Objective: Transition from pediatric to adult health care is a particularly vulnerable period for patients with inborn metabolic diseases.

Our objective in this study was to evaluate the current transition of patients with phenylketonuria (PKU) in Malaga, Spain, by analysis of the metabolic control, medical care, patients satisfaction and phychosocial status.

Material and methods: We evaluate all the patients transferred to our adult unit between 2008 and 2012. Pediatric case notes and the present physician’s case notes were analyzed retrospectively.

Results: Sixteen patients (8 F/M) patients were analysed. At the time of transition, 13/16 were in good metabolic control according to current treatment guidelines. 13/16 were on a low phenylalanine diet in combination with intake of a phenylalanine free amino acid mixture. 3/16 were taking BH 4 with normal intake of proteins. 6/16 had BMI higher than 25 kg/m² (1/16 with BMI>40). 1/16 had osteopenia and 2/16 had severe osteroporosis. 8/16 carried a secondary school certificate and 3/16 had achieved universitary studies. 3/16 with phychopatology (all of them with late diagnosis). 3/16 were married (two women had children).

Conclusions: The patients were quite satisfied with the transitional process. During transition medical care and metabolic control were stable. The individual optimization of the therapy, established during pediatric care provides the decisive ground work for disease control in adults. It’s important to prepare, coordinate and evaluate transitional processes.