scholarly journals Deficiency of long-chain polyunsaturated fatty acids in phenylketonuria: a cross-sectional study

2018 ◽  
Vol 65 (2) ◽  
pp. 303-308 ◽  
Author(s):  
Sławomira Drzymała-Czyż ◽  
Łukasz Kałużny ◽  
Patrycja Krzyżanowska-Jankowska ◽  
Dariusz Walkowiak ◽  
Renata Morzymas ◽  
...  

Deficiency of long-chain polyunsaturated fatty acids in phenylketonuria: a cross-sectional study   Abstract            The etiology of altered blood fatty acid (FA) profile in phenylketonuria (PKU) is understood only partially.            We aimed to determine whether FAs deficiency is dependent on diet or metabolic disturbances.            The study comprised 40 PKU patients (20 female, 20 male; aged 11 to 35 years;  12 children and 28 adults) and 40 healthy subjects (HS; 20 female, 20 male, aged 18 to 33 years). We assessed the profile of FAs (gas chromatography/mass spectrometry) and analyzed the 72-hour dietary recalls.            The amount of C14:0, C16:0 and C16:1n-7, C18:1n-9 did not differ between the analyzed groups. The percentage of C18:0 was higher, while C20:3n-9, C18:2n-6, C20:2n-6, C20:4n-6, C22:4n-6, C22:5n-6 and C22:6n-3 was lower in PKU than in HS. However, C18:3n-6, C18:3n-3 and n-6/n-3 ratio were higher in PKU patients. The C20:4n-6/C20:3n-6 ratio (reaction catalyzed by Δ5-desaturase), the C22:5n-6/C22:4n-6 and the C22:6n-3/C22:5n-3 ratio (both reactions catalyzed by Δ6-desaturase) were significantly lower in PKU patients.            The deficiency of long-chain polyunsaturated fatty acids in PKU patients may result not only from inadequate supply but also from metabolic disturbances.

2020 ◽  
Vol 79 (OCE2) ◽  
Author(s):  
Ana Pinto ◽  
Helen MacLaughlin ◽  
Robert Gray ◽  
Wendy Hall

AbstractThe risk of sudden cardiac death (SCD) is doubled when a patient with chronic kidney disease (CKD) stage 5 starts haemodialysis. Low heart rate variability (HRV) has been reported to be independently associated with increased risk of SCD and all cardiac death in haemodialysis patients. Long chain n-3 polyunsaturated fatty acids (LC n-3 PUFA; 20:5n-3, EPA and 22:6n-3, DHA) may exert anti-arrhythmic effects on cardiac myocytes. Haemodialysis patients have lower serum LC n-3 PUFA levels compared to populations without CKD. Few studies have investigated the relationship between LC n-3 PUFA and HRV in patients with CKD. This study aimed to characterise the variability of LC n-3 PUFA status in patients who recently commenced haemodialysis, and to investigate relationships between LC n-3 PUFA status and HRV. A cross-sectional study was conducted in adults aged 40–80 years with CKD commencing haemodialysis (within 6–10 weeks) (NRES research ethics committee ref: 14/LO/0186). At 2 separate study days, pre-dialysis blood samples were taken to measure fatty acid composition by GC, and HRV monitors (Actiheart, CamNtech Ltd, UK) were fitted after dialysis had started to monitor parameters of cardiac autonomic function during dialysis, during the night, and for a total of 24 h. Forty-five patients (mean age 58 y, SD 9, 20 females/25 males) completed data collection at least once; 91% presented hypertension and 39% had type 2 diabetes. Sample mean omega-3 index (O3I; EPA + DHA as a % of fatty acids in erythrocyte membranes) was very low (3.45%, SD 1.25; median 3.26 %, IQR 1.32); only 2 individuals had O3I > 5%. Variability in erythrocyte EPA (median 0.66 %, IQR 0.42) and DHA (median 2.40 %, IQR 1.32) was limited. Most HRV parameters did not significantly correlate with O3I following adjustment (e.g. age, BMI, β-blockers). Plasma EPA significantly positively correlated with overall and longer phase components of HRV and significantly negatively correlated with beat-to-beat variability over 24 h after full adjustment for confounders. This suggests that although higher circulating EPA concentrations were associated with better cardiac responsivity to environmental stimulations over 24 h, they were also associated with poorer parasympathetic tone (the predominant influence on beat-to-beat HRV). No correlations were observed between plasma DHA and HRV. The divergent pattern of relationships between plasma EPA versus DHA and HRV raises the theory that patients commencing haemodialysis may have compromised conversion of EPA to DHA which may impair vagally-mediated regulation of cardiac autonomic function, a potential mechanism for high risk of SCD.


2013 ◽  
Vol 10 (1) ◽  
pp. 41 ◽  
Author(s):  
Ayami Kume ◽  
Kayo Kurotani ◽  
Masao Sato ◽  
Yuko Ejima ◽  
Ngoc Pham ◽  
...  

2005 ◽  
Vol 15 (6) ◽  
pp. 211-218 ◽  
Author(s):  
Kenji Wakai ◽  
Yoshinori Ito ◽  
Masayo Kojima ◽  
Shinkan Tokudome ◽  
Kotaro Ozasa ◽  
...  

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