Phenylketonuria felnőttkorban

Sumánszki, Csaba; Barta, András Gellért; Reismann, Péter

doi:10.1556/650.2017.30888

Cited by 3 publications

(2 citation statements)

References 43 publications

(71 reference statements)

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“…The standard treatment for PKU is dietary management, which consists of natural protein intake restriction and the consumption of Phe-free amino acid supplementation (AAS) [1,2]. The introduction of neonatal screening programs and lifelong dietary therapy since the 1970s has allowed patients to reach adulthood without major sequelae; however, long-term consequences of the disease and therapy in early-treated PKU (ETPKU) patients have only been partially explored [3].…”

Section: Phenylketonuriamentioning

confidence: 99%

The Impact of Phenylketonuria on Body Composition in Adults

et al. 2021

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Introduction: Patients with phenylketonuria (PKU) must follow a lifelong phenylalanine (Phe)-restricted diet with additional amino acid supplementations, and this may put them at risk for nutritional disturbances. However, the body composition and nutritional status of adult patients with PKU has only been partially explored. The current study aims to assess the body composition of adult patients with PKU using multifrequency bioimpedance analysis (MF-BIA) and to reveal potential correlations between therapy adherence and body composition. Additionally, we compared body composition of patients with healthy controls. Methods: Fifty adult patients with early-treated PKU (27 female and 23 male) and 40 healthy, age- and gender-matched controls were included in this single-center, cross-sectional study. MF-BIA was performed on all subjects. Additionally, we determined serum nutritional markers for all patients. In the PKU patient group, correlation analyses were performed between body composition parameters and therapy adherence. We compared body composition of patients with PKU and controls using BIA. Results: The proportion of overweight was 56% among all patients with PKU. Female patients with PKU had significantly higher body fat percentage compared with controls. In parallel with higher fat content, we observed lower muscle mass, protein, and mineral content among female patients with PKU compared to controls. Such findings were not observed in male patients. Female patients with PKU had decreased therapy adherence and had significantly lower prealbumin levels compared with males. There was no significant correlation observed between body composition parameters and therapy adherence over the last 10 years in the PKU patient group. Conclusion: Although female patients had less optimal therapy adherence over the last 10 years compared with male patients, our results suggest that this does not influence body composition fundamentally. Our results suggest that obesity is an important comorbidity in young adult patients with PKU, especially in females. We advocate that nutritional assessments and weight management should be additional objectives of PKU management to provide optimal care.

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Section: Phenylketonuriamentioning

confidence: 99%

The Impact of Phenylketonuria on Body Composition in Adults

et al. 2021

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“…The lifelong PKU therapy aims to keep Phe levels within a safe range where the occurrence of neuropsychological symptoms remains very low. There is still an ongoing debate regarding the safe ranges of blood Phe in adulthood, the European guideline suggests a target blood Phe level between 120 and 600 μmol/L for adult patients [8][9][10][11][12].…”

Section: Introductionmentioning

confidence: 99%

Long-Term Renal Function in Adult Patients with Phenylketonuria

Prepok,

Schnabel,

Sumánszki

et al. 2023

Nephron

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Introduction. In phenylketonuria (PKU) toxic phenylalanine (Phe) can harm other organs beyond the brain. Furthermore, the lifelong therapy of PKU consists of consumption of increased amounts of amino acid mixture that provoke hyperfiltration in glomeruli. Therefore, the adherence to therapy in PKU might influence the long-term kidney function in PKU patients. Methods. Data from 41 adult, early treated PKU patients were analyzed in this 10-year, retrospective, monocentric study. Two subgroups were created according to their therapy-adherence: one with long-term blood Phe levels in the therapeutic range (<600 µmol/l), and one with suboptimal blood Phe levels. Renal function and metabolic parameters were collected over 10 years. Kidney function parameters were compared between the two groups and associations between blood Phe levels and kidney function were tested. Results. After 10 years, serum creatinine levels (p=0,369) and estimated glomerular filtration rate (eGFR) (p=0,723) did not change significantly from baseline in the good therapeutic group. The suboptimal therapeutic group’s eGFR decreased in the same period (from 110.4 ± 14 ml/min/1,73 m2 to 94.2 ± 16 ml/min/1.73 m2, p=0.017). At 10 years the suboptimal therapeutic group had an increased serum creatinine level (81 ± 14.4 μmol/L vs. 71.5 ± 13 μmol/L vs., p=0.038), and a decreased eGFR (94.2 ± 16 ml/min/1.73 m2 vs. 103.3 ± 13 ml/min/1.73 m2 p=0.031) compared to the good adhering group. Significant negative correlation between Phe levels and eGFR (r=-0.41, p=0.008) was observed. Conclusion. Long-term suboptimal therapy adherence in PKU patients with high blood Phe levels may lead to deteriorations in kidney function.

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Designing stimuli-responsive upconversion nanoparticles based on an inner filter effect mimetic immunoassay for phenylketonuria accuracy diagnosis

Wang

et al. 2022

Colloids and Surfaces B: Biointerfaces

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Phenylketonuria felnőttkorban

Cited by 3 publications

References 43 publications

The Impact of Phenylketonuria on Body Composition in Adults

The Impact of Phenylketonuria on Body Composition in Adults

Long-Term Renal Function in Adult Patients with Phenylketonuria

Designing stimuli-responsive upconversion nanoparticles based on an inner filter effect mimetic immunoassay for phenylketonuria accuracy diagnosis

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