Metabolic Control of Patients with Phenylketonuria in a Portuguese Metabolic Centre Comparing Three Different Recommendations

Kanufre, Viviane de Cássia; Almeida, Manuela Ferreira de; Barbosa, Catarina; Carmona, Carla; Bandeira, Anabela; Martins, Esmeralda; Rocha, Sara; Guimas, Arlindo; Ribeiro, Rosa Lúcia Rocha; MacDonald, Anita; Pinto, Alex; Rocha, Júlio César

doi:10.3390/nu13093118

Cited by 16 publications

(25 citation statements)

References 28 publications

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“…If people with PKU or their caregivers do not detect changes in protein labelling immediately, it may potentially lead to a long-term miscalculation of protein intake. It is well established that some patients with PKU struggle with maintaining satisfactory blood phenylalanine control [ 7 , 8 , 9 ]. This is often attributed to poor dietary adherence, but inadequate standards of food protein labelling could contribute to this.…”

Section: Discussionmentioning

confidence: 99%

The Challenges and Dilemmas of Interpreting Protein Labelling of Prepackaged Foods Encountered by the PKU Community

et al. 2022

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Phenylketonuria (PKU) can lead to severe intellectual impairment unless a phenylalanine-restricted diet starts early in life. It requires expert user knowledge about the protein content of foods. The ability of adults or caregivers of children with PKU to calculate protein exchanges from food labels on manufactured foods and any difficulties they encounter in interpreting food labels has not been studied systematically. Individuals with PKU or their caregivers residing in the UK were invited to complete a cross-sectional online survey that collected both qualitative and quantitative data about their experience when calculating protein exchanges from the food labelling on prepackaged foods. Data was available from 246 questionnaire respondents (152 caregivers of patients with PKU aged <18 years, 57 patients with PKU aged ≥18 years or their caregivers (n = 28), and 9 teenagers with PKU). Thirty-one per cent (n = 76/246) found it difficult to interpret food protein exchanges from food labels. The respondents listed that the main issues with protein labelling were the non-specification of whether the protein content was for the cooked or uncooked weight (64%, n = 158/246); labels stating foods contained 0 g protein but then included protein sources in the list of ingredients (56%, n = 137/246); the protein content being given after a product was prepared with regular milk rather than the dry weight of the product (55%, n = 135/246); and the non-clarity of whether the protein content was for the weight of prepared or unprepared food (in addition to non-specification of cooked or uncooked weights on food labelling) (54%, n = 133/246). Over 90% (n = 222/246) of respondents had experienced problems with food labelling in the previous six months. Misleading or confusing protein labelling of manufactured foods was common. The food industry and legislators have a duty to provide accurate and clear protein food labelling to protect populations requiring low protein diets.

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Section: Discussionmentioning

confidence: 99%

The Challenges and Dilemmas of Interpreting Protein Labelling of Prepackaged Foods Encountered by the PKU Community

et al. 2022

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“…This prevents the hydroxylation of Phe, an essential amino acid, to tyrosine (Tyr), resulting in increased blood and brain Phe concentrations. [13][14][15] Immediate and continuous treatment after newborn screening is critical for promoting normal development and healthy growth. 15) Parents of individuals with PKU have two genes, one intact and one defective, that are responsible for PAH enzyme production, and children who inherit the defective genes from both parents are born with PKU, with a very high incidence of developing the disease (25%).…”

Section: Phenylketonuriamentioning

confidence: 99%

“…[13][14][15] Immediate and continuous treatment after newborn screening is critical for promoting normal development and healthy growth. 15) Parents of individuals with PKU have two genes, one intact and one defective, that are responsible for PAH enzyme production, and children who inherit the defective genes from both parents are born with PKU, with a very high incidence of developing the disease (25%). 4,16) The main goal of healthy growth and development is to ensure that blood Phe levels remain at a safe level and sufficient dietary intake of macro-and micronutrients.…”

Section: Phenylketonuriamentioning

confidence: 99%

“…4,16) The main goal of healthy growth and development is to ensure that blood Phe levels remain at a safe level and sufficient dietary intake of macro-and micronutrients. 15) Phe, an essential amino acid that is consumed as food and cannot be synthesized in the body, is converted to Tyr by the PAH enzyme in healthy individuals. 16) However, due to the absence of PAH in these patients, normal dietary Phe is not converted to Tyr, preventing the formation of important metabolites such as adrenaline, noradrenaline, thyroxine, melanin, L-dopa, and dopamine.…”

Section: Phenylketonuriamentioning

confidence: 99%

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Protein substitutions as new-generation pharmanutrition approach to managing phenylketonuria

Keskin¹,

Şahin²,

Capasso³

et al. 2023

Clin Exp Pediatr

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Phenylketonuria (PKU), an autosomal recessive inherited metabolic disorder, is caused by a mutation in the phenylalanine hydroxylase (PAH) gene on the 12 th chromosome. Defective PAH activity ultimately leads to increased phenylalanine (Phe) blood concentrations (hyperphenylalaninemia) that harm the brain. The primary purpose of PKU treatment is to maintain the blood Phe level to prevent certain undesired effects. Hence, lifelong medical nutrition therapy is recommended for these patients.The usefulness of natural protein sources may be limited, as they are based on individual Phe tolerance, and a patient's daily protein requirements are supported by Phe-free amino acid mixtures. A few PKU treatment centers recently started using supplemental casein glycomacropeptide, pegvaliase, or large neutral amino acids, and some patients are treated by responding to tetrahydrobiopterin, which works as a pharmaceutical chaperone (prescribed as sapropterin dihydrochloride). This review discusses the efficacy and safety considerations of basic medical nutrition approaches and new-generation protein substitutes that are used to treat PKU.

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“…Dietary adherence becomes increasingly challenging with age and metabolic control commonly deteriorates from adolescence [ 14 , 15 , 16 , 17 , 18 ]; it is estimated that 25% to 40% of adults who remain in clinical follow up discontinue treatment [ 19 ]. Most adults have difficultly re-establishing dietary control after a period ‘off diet’ or dietary relaxation [ 20 ].…”

Section: Nutritional Vulnerability Of Women With Pku In Their Reprodu...mentioning

confidence: 99%

The Impact of the Quality of Nutrition and Lifestyle in the Reproductive Years of Women with PKU on the Long-Term Health of Their Children

et al. 2022

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A woman’s nutritional status before and during pregnancy can affect the health of her progeny. Phenylketonuria (PKU), a rare disorder causing high blood and brain phenylalanine (Phe) concentrations, is associated with neurocognitive disability. Lifelong treatment is mainly dietetic with a Phe-restricted diet, supplemented with a low-Phe protein substitute. Treatment adherence commonly decreases in adolescence, with some adults ceasing dietary treatment. In maternal PKU, elevated blood Phe is harmful to the fetus so a strict Phe-restricted diet must be re-established preconception, and this is particularly difficult to achieve. A woman’s reproductive years introduces an opportunity to adopt healthier behaviours to prepare for successful pregnancies and positive health outcomes for both themselves and their children. Several factors can influence the health status of women with PKU. Political, socioeconomic, and individual food and lifestyle choices affect diet quality, metabolic control, and epigenetics, which then pre-condition the overall maternal health and long-term health of the child. Here, we reflect on a comprehensive approach to treatment and introduce practical recommendations to optimize the wellbeing of women with PKU and the resultant health of their children.

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Metabolic Control of Patients with Phenylketonuria in a Portuguese Metabolic Centre Comparing Three Different Recommendations

Cited by 16 publications

References 28 publications

The Challenges and Dilemmas of Interpreting Protein Labelling of Prepackaged Foods Encountered by the PKU Community

The Challenges and Dilemmas of Interpreting Protein Labelling of Prepackaged Foods Encountered by the PKU Community

Protein substitutions as new-generation pharmanutrition approach to managing phenylketonuria

The Impact of the Quality of Nutrition and Lifestyle in the Reproductive Years of Women with PKU on the Long-Term Health of Their Children

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