Micronutrient status in phenylketonuria

Robert, M.; Rocha, Júlio César; Rijn, M. van; Ahring, Kirsten; Bélanger-Quintana, Amaya; MacDonald, Anita; Dokoupil, Katharina; Özel, Hülya Gökmen; Lammardo, A. M.; Goyens, Philippe; Feillet, François

doi:10.1016/j.ymgme.2013.09.009

Cited by 47 publications

(45 citation statements)

References 90 publications

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“…In some, the amount of added nutrients is calculated based on the needed daily calories, while in others advised intakes of protein/kilogram bodyweight is used to assess appropriate nutrient composition [5]. Studies evaluating intake and deficiencies of nutrients in PKU reported variable nutrient intakes and blood concentrations [6,7,8]. A minority of patients is responsive to a recently available (2009) treatment with tetrahydrobiopterin (BH4), a cofactor of PAH.…”

Section: Introductionmentioning

confidence: 99%

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Micronutrients, Essential Fatty Acids and Bone Health in Phenylketonuria

et al. 2017

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Introduction: In phenylketonuria (PKU), a natural protein-restricted dietary treatment prevents severe cognitive impairment. Nutrient deficiencies may occur due to strict diet. This study is aimed at evaluating the dietary intake and blood concentrations of micronutrients and essential fatty acids (FA), bone mineral density (BMD) and fracture history in patients on long-term dietary treatment. Methods: Sixty early diagnosed Dutch patients (aged 1-39 years) were included in a multi-center cross-sectional study. Their dietary intake, blood concentrations of micronutrients, FA, fracture history and BMD were assessed. Results: Selenium dietary intake and serum concentrations were low in 14 and 46% of patients, respectively. The serum 25-OH vitamin D2 + D3 concentration was low in 14% of patients while 20% of patients had a low vitamin D intake. Zinc serum concentrations were below normal in 14% of patients, despite adequate intake. Folic acid serum concentrations and intake were elevated. Despite safe total protein and fat intake, arginine plasma concentrations and erythrocyte eicosapentaenoic acid were below reference values in 19 and 6% of patients, respectively. Low BMD (Z-score <-2) was slightly more prevalent in patients, but the lifetime fracture prevalence was comparable to the general population. Conclusions: Dutch patients with PKU on long-term dietary treatment have a near normal nutrient status. Supplementation of micronutrients of which deficiency may be deleterious (e.g., vitamin D and selenium) should be considered. BMD warrants further investigation.

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Section: Introductionmentioning

confidence: 99%

“…BH4 increases the dietary Phe tolerance and thus permits diet relaxation [9]. Deficiencies have been reported in responsive patients on a relaxed diet, who might experience difficulties making food choices after years of strict dieting [7]. …”

Section: Introductionmentioning

confidence: 99%

Micronutrients, Essential Fatty Acids and Bone Health in Phenylketonuria

et al. 2017

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“…However, there are ways to significantly improve the absorption of Fe by combining foods rich in vitamin C and other organic acids, commonly found in fruits and vegetables. 12,33 Zinc is one of the most abundant nutritionally essential elements in the human body. It is important for the structure Table 3 Tocopherol and tocotrienol 0.11 ± 0.00 0.14 ± 0.00…”

Section: G)mentioning

confidence: 99%

Targeting specific nutrient deficiencies in protein-restricted diets: some practical facts in PKU dietary management

et al. 2014

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Among aminoacidopathies, phenylketonuria (PKU) is the most prevalent one. Early diagnosis in the neo-natal period with a prompt nutritional therapy (low natural-protein and phenylalanine diet, supplemented with phenylalanine-free amino acid mixtures and special lowprotein foods) remains the mainstay of the treatment. Data considering nutrient contents of cooked dishes is lacking. In this study, fourteen dishes specifically prepared for PKU individuals were analysed, regarding the lipid profile and iron and zinc con-tents. These dishes are poor sources of essential nutrients like Fe, Zn or n-3 fatty acids, reinforcing the need for adequate supplementation to cover individual patients' needs. This study can contribute to a more accurate adjustment of PKU diets and supplementation in order to prevent eventual nutritional deficiencies. This study contributes to a better understanding of nutrient intake from PKU patients' meals, showing the need for dietary supplementation.

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“…Good metabolic control means maintaining blood levels between 2 and 6 mg/dL (120-360 mmol/L) throughout life. [1][2][3][4][5][6][7] The diet prohibits all foods of animal origin because of the high PHE content. Foods such as cereals and most fruits and vegetables should be carefully monitored, and the exact PHE content of each should be known.…”

Section: Introductionmentioning

confidence: 99%

Chilean Nutrition Management Protocol for Patients With Phenylketonuria

Castro

Hamilton

Cornejo

2017

Journal of Inborn Errors of Metabolism and Screening

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Since neonatal screening and early nutritional treatment began, it has been possible to reverse the neurological damage that phenylketonuria (PKU) causes. Scientific evidence gathered over more than 50 years on the monitoring of individuals with PKU indicates that a phenylalanine level of about 6 mg/dL (360 mmol/L) is ideal and points to the necessity of starting a long-term phenylalanine-restricted diet in which blood phenylalanine level should stay between 2 and 6 mg/dL (120-360 mmol/L). This article aims to establish the general basis for proper monitoring of people with PKU and provide a useful tool for clinicians overseeing treatment. We hope to establish similar criteria throughout Latin America and create a uniform protocol in order to have comparative monitoring results for the region.

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Micronutrient status in phenylketonuria

Cited by 47 publications

References 90 publications

Micronutrients, Essential Fatty Acids and Bone Health in Phenylketonuria

Micronutrients, Essential Fatty Acids and Bone Health in Phenylketonuria

Targeting specific nutrient deficiencies in protein-restricted diets: some practical facts in PKU dietary management

Chilean Nutrition Management Protocol for Patients With Phenylketonuria

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