Diet Therapy and Nutritional Management of Phenylketonuria

• Other Authors: MacDonald, Anita (Editor)
• Format: Electronic Book Chapter
• Language: English
• Published: MDPI - Multidisciplinary Digital Publishing Institute 2022
• Subjects: Research & information: general; Biology, life sciences; Food & society; phenylketonuria; special low protein foods; nutritional composition; UK; macronutrients; phenylketonuria (PKU); consensus; Delphi method; food labelling; phenylalanine; Phe; protein; exchanges; PKU; glycomacropeptide; amino acid; absorption; diet therapy; protein substitute; gastrointestinal symptoms; prolonged release; satiety; macronutrient intake; protein content; free from; gluten free; aspartame; sugar tax; phenylalanine hydroxylase deficiency; hyperphenylalaninemia; medical formula; amino acid mixture; tetrahydrobiopterin; sapropterin; BH4; body composition; bone mineral density; bone turnover markers; osteoporosis; blood biochemistry; casein glycomacropeptide; amino acid protein substitute; low-protein diet; newborn screening; metabolic control; guidelines; nitrogen balance; amino acid catabolism; blood urea nitrogen; body mass index; obesity; overweight; phenylalanine restriction; phenylalanine-restricted diet; food; school; IHCP; parent/caregiver experiences; England; prescribing patterns; costs; adult phenylketonuria; standard operating procedure; inherited metabolic disorders; dietary management; eating out; low protein food; restaurants; amino acids; adherence; epigenetics; health; preconception; women; dietary patterns; food frequency questionnaire; validation; reproducibility
• Online Access: DOAB: download the publication; DOAB: description of the publication

Phenylketonuria (PKU) is an established inherited amino acid disorder with a very traditional dietary therapy, but there is still more to learn and verify about its nutritional composition, application and overall effectiveness. Although in the 1950s, the first patient successfully treated with diet therapy patently established the role of a low phenylalanine protein substitute, in present times, it is still necessary to characterise the most effective source of artificial protein; defining its optimal amino acid profile; and identifying nutrient modulation that will improve the functionality of protein substitutes. It is also important to understand the impact of a life-long synthetic diet on gut microbiota, metabolomics and inflammatory status. In early-treated patients with PKU, it is unclear if co-morbidities such as overweight, obesity, hypertension and diabetes are higher than in the general population and if these are associated with increased cardiovascular risk. It is also uncertain if overweight and obesity in PKU is related to early dietary practices, the nutritional composition of protein substitutes and special low-protein foods, impact of the dietary treatment on satiety, disordered eating patterns, non-adherence with the low phenylalanine diet and poor metabolic control, or if this is even a consequence of the disorder. In a generation of ageing patients, the impact of intermittent and suboptimal dietary adherence on nutritional status deserves systematic study.