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Outcomes of phenylketonuria with relevance to follow-up.

ABSTRACT: Currently, there is no international consensus on how patients with phenylketonuria (PKU) (or milder forms of hyperphenylalaninaemia) should be followed in clinical practice. Guidelines concerning the frequency and type of assessments that should be made according to age usually focus on blood phenylalanine concentrations. A need exists for improved guidelines on how to do the follow-up of individuals with PKU/milder forms of hyperphenylalaninaemia. An interdisciplinary approach for monitoring patients is required, involving relevant clinical investigations and regular contact with a clinician and dietician/nutritionist as well as contact with social health worker, psychologist and neurologist, at least at request. This chapter presents a scheme for follow-up. However, by no means this scheme aims to present the one for all time follow-up programme. The scheme for follow-up may rather serve as a start for further discussion in larger groups of professionals in collaboration with patients and their parents. A number of questions remain unanswered, and further research is still needed to fine-tune the management of PKU at different ages.

SUBMITTER: van Spronsen FJ

PROVIDER: S-EPMC3509817 | biostudies-literature | 2011

REPOSITORIES: biostudies-literature

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Outcomes of phenylketonuria with relevance to follow-up.

van Spronsen F J FJ Bélanger-Quintana A A

JIMD reports 20110622

Currently, there is no international consensus on how patients with phenylketonuria (PKU) (or milder forms of hyperphenylalaninaemia) should be followed in clinical practice. Guidelines concerning the frequency and type of assessments that should be made according to age usually focus on blood phenylalanine concentrations. A need exists for improved guidelines on how to do the follow-up of individuals with PKU/milder forms of hyperphenylalaninaemia. An interdisciplinary approach for monitoring p ...[more]

PMID: 23430828

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Project description:BackgroundPeople with Phenylketonuria (PKU) who respond to tetrahydrobiopterin (BH4) often decrease dependence on medical food (MF) following increased phenylalanine (phe) tolerance. Responders to BH4 may experience a reduction in certain nutrients if not compensated through intact foods or supplements. This study investigated B6, B12, folate, and iron status based on blood levels and dietary intake in patients with PKU responsive to BH4 over 1 year.MethodsFifty-eight patients with PKU, ages 4-50 years were recruited and initiated on BH4 therapy. Patients were monitored for BH4 response, and nutritional status was recorded at regular intervals over 12 months. The analysis included 33 patients with known BH4 response status and complete nutritional data. Nutrient intake was determined by National Data System for Research (NDSR) analysis of self reported 3 day diet records and compared to Dietary Reference Intakes (DRIs). Blood biomarkers were analyzed by Quest Diagnostics and compared to laboratory reference ranges. Patient laboratory values were compared to controls from the National Health and Examination Survey (NHANES). Differences in nutrient intakes across time points were examined, stratified by age, using nonparametric methods. Statistical analyses were completed with SAS 9.4, with significance set at α = 0.05.ResultsMedical food intake declined among pediatric (p < 0.01) and adult (p = 0.06) BH4 responders over 1 year. Among those < 18 years of age, mean percent of calories obtained from MF declined from 21.3 to 4.7%. In adults, percent calories from MF dropped from 19.5 to 4.0%. Though maintaining laboratory and dietary values within reference ranges, responders < 18 years experienced a significant decline in serum B12 (p = 0.01), dietary folate (p = 0.006), and dietary iron (p = 0.004) over the study.ConclusionAlthough mean dietary and laboratory values for B12, B6, folate, and iron in BH4 responders and non-responders were adequate at baseline and 12-month follow-up, responders experienced a significant decline in serum B12 over 1 year, which may be explained by decreased intake of fortified MF. Both response groups had lower serum B12 than NHANES controls at baseline and 12 months. Results indicate a need to monitor B12 concentrations and consider micronutrient supplementation, with special attention to pediatric patients with PKU.

Dataset Information

Outcomes of phenylketonuria with relevance to follow-up.

Publications

Outcomes of phenylketonuria with relevance to follow-up.

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