Diet Therapy and Nutritional Management of Phenylketonuria

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...

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שפה:אנגלית
יצא לאור: MDPI - Multidisciplinary Digital Publishing Institute 2022
נושאים:
UK
Phe
PKU
BH4
גישה מקוונת:ONIX_20221025_9783036553191_125
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_version_ 1869529007282716672
collection Directory of Open Access Books
description 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.
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spelling doab-20.500.12854ir-932722024-03-28T03:30:57Z Diet Therapy and Nutritional Management of Phenylketonuria MacDonald, Anita 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 thema EDItEUR::G Reference, Information and Interdisciplinary subjects::GP Research and information: general thema EDItEUR::P Mathematics and Science::PS Biology, life sciences thema EDItEUR::J Society and Social Sciences::JB Society and culture: general::JBC Cultural and media studies::JBCC Cultural studies::JBCC4 Cultural studies: food and society 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. 2022-10-25T09:05:04Z 2022-10-25T09:05:04Z 2022 book ONIX_20221025_9783036553191_125 9783036553191 9783036553207 https://directory.doabooks.org/handle/20.500.12854/93272 eng application/octet-stream Attribution 4.0 International https://mdpi.com/books/pdfview/book/6170 https://mdpi.com/books/pdfview/book/6170 MDPI - Multidisciplinary Digital Publishing Institute 10.3390/books978-3-0365-5320-7 10.3390/books978-3-0365-5320-7 46cabcaa-dd94-4bfe-87b4-55023c1b36d0 9783036553191 9783036553207 376 open access
spellingShingle 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
thema EDItEUR::G Reference, Information and Interdisciplinary subjects::GP Research and information: general
thema EDItEUR::P Mathematics and Science::PS Biology, life sciences
thema EDItEUR::J Society and Social Sciences::JB Society and culture: general::JBC Cultural and media studies::JBCC Cultural studies::JBCC4 Cultural studies: food and society
Diet Therapy and Nutritional Management of Phenylketonuria
title Diet Therapy and Nutritional Management of Phenylketonuria
title_full Diet Therapy and Nutritional Management of Phenylketonuria
title_fullStr Diet Therapy and Nutritional Management of Phenylketonuria
title_full_unstemmed Diet Therapy and Nutritional Management of Phenylketonuria
title_short Diet Therapy and Nutritional Management of Phenylketonuria
title_sort diet therapy and nutritional management of phenylketonuria
topic 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
thema EDItEUR::G Reference, Information and Interdisciplinary subjects::GP Research and information: general
thema EDItEUR::P Mathematics and Science::PS Biology, life sciences
thema EDItEUR::J Society and Social Sciences::JB Society and culture: general::JBC Cultural and media studies::JBCC Cultural studies::JBCC4 Cultural studies: food and society
topic_facet 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
thema EDItEUR::G Reference, Information and Interdisciplinary subjects::GP Research and information: general
thema EDItEUR::P Mathematics and Science::PS Biology, life sciences
thema EDItEUR::J Society and Social Sciences::JB Society and culture: general::JBC Cultural and media studies::JBCC Cultural studies::JBCC4 Cultural studies: food and society
url ONIX_20221025_9783036553191_125