Abstract
BackgroundPhenylketonuria (PKU) is an autosomal recessive disorder of phenylalanine metabolism. The inability to convert phenylalanine (Phe) into tyrosine causes Phe to accumulate in the body. Adherence to a protein restricted diet, resulting in reduced Phe levels, is essential to prevent cognitive decline. Frequent evaluation of plasma Phe levels and, if necessary, adjustment of the diet are the mainstay of treatment. We aimed to assess whether increased self-management of PKU patients and/or their parents is feasible and safe, by providing direct online access to blood Phe values without immediate professional guidance.MethodsThirty-eight patients aged ≥ 1 year participated in a 10 month randomized controlled trial. Patients were randomized into a study group (1) or a control group (2). Group 2 continued the usual procedure: a phone call or e-mail by a dietician in case of a deviant Phe value. Group 1 was given a personal "My PKU" web page with a graph of their recent and previous Phe values, online general information about the dietary treatment and the Dutch PKU follow-up guidelines, and a message-box to contact their dietician if necessary. Phe values were provided on "My PKU" without advice. Outcome measures were: differences in mean Phe value, percentage of values above the recommended range and Phe sample frequency, between a 10-month pre-study period and the study period in each group, and between the groups in both periods. Furthermore we assessed satisfaction of patients and/or parents with the 'My PKU' procedure of online availability.ResultsThere were no significant differences in mean Phe value, percentage of values above recommended range or in frequency of blood spot sampling for Phe determination between the pre-study period and the study period in each group, nor between the 2 groups during the periods. All patients and/or parents expressed a high level of satisfaction with the new way of disease management.ConclusionsIncreased self-management in PKU by providing patients and/or parents their Phe values without advice is feasible and safe and is highly appreciated.Trial registrationThe trial was registered with The Netherlands National Trial Register (NTR #1171) before recruitment of patients.
Highlights
Phenylketonuria (PKU) is an autosomal recessive disorder of phenylalanine metabolism
Phenylketonuria (PKU; MIM 261600) is an autosomal recessive inborn error of phenylalanine metabolism caused by a deficiency of the enzyme phenylalanine hydroxylase (PAH; EC 1.14.16.1)
Participants Patients were recruited via treating physicians in the two participating Dutch metabolic centers (AMC and Leiden University Medical Center (LUMC))
Summary
Phenylketonuria (PKU) is an autosomal recessive disorder of phenylalanine metabolism. The inability to convert phenylalanine (Phe) into tyrosine causes Phe to accumulate in the body. Frequent evaluation of plasma Phe levels and, if necessary, adjustment of the diet are the mainstay of treatment. We aimed to assess whether increased self-management of PKU patients and/or their parents is feasible and safe, by providing direct online access to blood Phe values without immediate professional guidance. There is still controversy about the safe upper limit of Phe levels during adult life, most current consensus guidelines support a diet for life [4,5,6,7]. Measurement of blood Phe levels to evaluate dietary adherence and to adjust therapy, is the cornerstone of the management of patients with PKU irrespective of age. Little evidence exists regarding selfmanagement in PKU, previous reports suggest that it might be a viable option [13] and might improve dietary compliance [14]
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