Dietetic Management of Adults with Phenylketonuria (PKU) in the UK: A Care Consensus Document.

Louise Robertson,Sarah Adam,Suzanne Ford,Melanie Hill,Carla Young,Gemma Randles,Alison Woodall,Charlotte Ellerton,Anita Macdonald

doi:10.3390/nu14030576

Abstract

There is an increasing number of adults and elderly patients with phenylketonuria (PKU) who are either early, late treated, or untreated. The principal treatment is a phenylalanine-restricted diet. There is no established UK training for dietitians who work with adults within the specialty of Inherited Metabolic Disorders (IMDs), including PKU. To address this, a group of experienced dietitians specializing in IMDs created a standard operating procedure (SOP) on the dietetic management of adults with PKU to promote equity of care in IMD dietetic services and to support service provision across the UK. The group met virtually over a period of 12 months until they reached 100% consensus on the SOP content. Areas of limited evidence included optimal blood phenylalanine reporting times to patients, protein requirements in older adults, management of weight and obesity, and management of disordered eating and eating disorders. The SOP does not include guidance on maternal PKU management. The SOP can be used as a tool for training dietitians new to the specialty and to raise the standard of education and care for patients with PKU in the UK.

Highlights

Phenylketonuria (PKU) is an autosomal recessive disorder of protein metabolism that is caused by a deficiency of phenylalanine hydroxylase, the enzyme which metabolizes the amino acid phenylalanine to tyrosine
The core group consisted of experienced Inherited Metabolic Disorders (IMDs) dietitians working in England and Scotland, and comments were sought from dietitians working in Wales and Northern Ireland to ensure that the whole of the UK was represented
Areas requiring further consideration and research included the timescale of informing patients of their phenylalanine blood results, protein requirements, and the inclusion of the assessment and management of disordered eating and eating disorders

Summary

Introduction

Phenylketonuria (PKU) is an autosomal recessive disorder of protein metabolism that is caused by a deficiency of phenylalanine hydroxylase, the enzyme which metabolizes the amino acid phenylalanine to tyrosine. Individuals are recommended to follow a lifelong phenylalaninerestricted diet, supplemented with a low-phenylalanine protein substitute [2,3] to protect the brain from the toxic effect of elevated phenylalanine. In the UK, PKU is detected through neonatal screening, which began in 1969. Neonatal screening and subsequent early diagnosis and initiation of treatment have changed the outcome of PKU [4], enabling the affected individuals to reach their full cognitive and intellectual potential. The healthcare and social-care savings are highly significant, as individuals do not need institutional care. Those with late-treated PKU are more likely to require special community care packages [5].

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