Living with phenylketonuria in adulthood: The PKU ATTITUDE study

Abstract

Dietary treatment is the cornerstone of therapy for phenylketonuria (PKU), but adherence to low- phenylalanine diet progressively decreases after adolescence. We designed a survey to characterize the dietary habits of Italian adult PKU patients and to identify psychological factors influencing disease perception and adherence to diet. Participants to the survey (n = 111; response rate 94%) were asked to complete a structured questionnaire. Patients appeared to have an altered perception and awareness of the disease. About 40% of them did not consider PKU a disease and, despite declaring regular monitoring of phenylalanine levels (85%), nearly half of them reported a high plasma value over the last 6 months (>600 μmol/L, 48%) or were unable to specify it (31%). Adherence to PKU diet was unsatisfactory, with increased consumption of natural protein sources and reduced daily use of amino-acid supplements (<4–5 times/day in 82% patients). In addition to the intrinsic characteristics of AA formula (palatability, ease of use), the most important factor influencing their consumption was the increased social pressure associated with their use (55%). Plasma phenylalanine periodical measurements (61%) and examinations at metabolic centers (49%) were considered relevant for compliance to diet. In Italian adult PKU patients dietary management was found to be inadequate, likely due to inappropriate perception and knowledge of the disease, and lack of awareness of the negative impact of poor metabolic control in adult life. Clinicians should consider implementing more intense and tailored educational measures, as well as structured transitional care processes.

AAV-Mediated CRISPR/Cas9 Gene Editing in Murine Phenylketonuria

“…2 Without PAH function, chronic untreated hyperphenylalaninemia causes severe neurological damage, leading to intellectual disability, psychological disorders, and seizures. 1,3 It is important to note that human clinical PKU phenotypes form a disease continuum, ranging from mild hyperphenylalaninemia (blood Phe = 120-600 mM) to mild PKU (blood Phe = 600-1200 mM), to the most severe, classical PKU (cPKU) (blood Phe > 1200 mM), depending upon the amount of residual liver PAH activity in the patient. Due to the severity of largely preventable neurological symptoms, all infants born in medically advanced countries undergo newborn screening for hyperphenylalaninemia and are placed on dietary treatment early in life.…”

Citric Acid Modified Bentonite for Congo Red Adsorption

“…However, the effluents discharged by these industries contain untreated dyes which can be toxic to human beings and aquatic life and hence their removal from contaminated wastewater is essential. Various methods such as adsorption over activated carbon (Wen et al, 2016), thermolysis, and coagulation (Yen et al, 2017), membrane separation (Cazzorla et al, 2018;Ye et al, 2018), electrochemical decolorization (Xu L. et al, 2018), photocatalytic degradation (Liu et al, 2019), and biological treatment (Banihani et al, 2018) have been widely reported for the removal of organic pollutants. Among these methods, adsorption over activated carbon is envisaged as highly effective technique.…”

Large neutral amino acid status in association with P:T ratio and diet in adult and pediatric patients with phenylketonuria

“…The majority of participants (75%) were noncompliant as evidenced by plasma PHE levels >360 μmol/L, which reduced the size of the compliant subgroup for our analysis. Unfortunately, high numbers of noncompliance with plasma PHE and diet requirements, particularly among adolescents and adults, are common in the PKU medical population . Another limitation was that plasma tryptophan could not be calculated into the sum of plasma LNAA concentrations in 14 cases.…”

“…Unfortunately, high numbers of noncompliance with plasma PHE and diet requirements, particularly among adolescents and adults, are common in the PKU medical population. [31][32][33][34] Another limitation was that plasma tryptophan could not be calculated into the sum of plasma LNAA concentrations in 14 cases. This may have affected the sum of the plasma LNAA concentration values and the significance of associations in the analysis.…”