Mehmet Gündüz1, Sevim Çakar2, Pınar Kuyum2, Balahan Makay2, Nur Arslan2. 1. 1Division of Metabolism,Ankara Children Education and Research Hospital,Ankara,Turkey. 2. 2Department of Pediatrics, Faculty of Medicine,Dokuz Eylul University,Izmir,Turkey.
Abstract
BACKGROUND: Previous studies investigating the known risk factors of atherosclerosis in phenylketonuria patients have shown conflicting results. The primary aim of our study was to investigate the serum atherogenic markers in adolescent classical phenylketonuria patients and compare these parameters with healthy peers. The secondary aim was to compare these atherogenic markers in well-controlled and poorly controlled patients. METHODS: A total of 59 patients (median age: 12.6 years, range: 11-17 years) and 44 healthy controls (median age: 12.0 years, range: 11-15 years) were enrolled in our study. Phenylketonuria patients were divided into two groups: well-controlled (serum phenylalanine levels below 360 µmol/L; 24 patients) and poorly controlled patients (serum phenylalanine levels higher than 360 µmol/L). RESULTS: The mean high-density lipoprotein cholesterol levels of well-controlled patients (1.0±0.2 mmol/L) were significantly lower compared with poorly controlled patients and controls (1.1±0.2 mmol/L, p=0.011 and 1.4±0.2 mmol/L, p<0.001, respectively). Poorly controlled patients had lower high-density lipoprotein cholesterol levels than healthy controls (p=0.003). Homocysteine levels of both well-controlled (9.8±6.4 µmol/L) and poorly controlled (9.2±5.6 µmol/L) patients were higher compared with controls (5.8±1.8 µmol/L, p<0.01). The mean platelet volume of well-controlled patients (9.5±1.1 fL) was higher than that of poorly controlled patients and controls (8.9±0.8 fL, p=0.024 and 7.7±0.6 fL, p<0.001, respectively). CONCLUSION: Lower high-density lipoprotein cholesterol and higher homocysteine and mean platelet volume levels were detected in phenylketonuria patients. In particular, these changes were more prominent in well-controlled patients. We conclude that phenylketonuria patients might be at risk for atherosclerosis, and therefore screening for atherosclerotic risk factors should be included in the phenylketonuria therapy and follow-up in addition to other parameters.
BACKGROUND: Previous studies investigating the known risk factors of atherosclerosis in phenylketonuriapatients have shown conflicting results. The primary aim of our study was to investigate the serum atherogenic markers in adolescent classical phenylketonuriapatients and compare these parameters with healthy peers. The secondary aim was to compare these atherogenic markers in well-controlled and poorly controlled patients. METHODS: A total of 59 patients (median age: 12.6 years, range: 11-17 years) and 44 healthy controls (median age: 12.0 years, range: 11-15 years) were enrolled in our study. Phenylketonuriapatients were divided into two groups: well-controlled (serum phenylalanine levels below 360 µmol/L; 24 patients) and poorly controlled patients (serum phenylalanine levels higher than 360 µmol/L). RESULTS: The mean high-density lipoprotein cholesterol levels of well-controlled patients (1.0±0.2 mmol/L) were significantly lower compared with poorly controlled patients and controls (1.1±0.2 mmol/L, p=0.011 and 1.4±0.2 mmol/L, p<0.001, respectively). Poorly controlled patients had lower high-density lipoprotein cholesterol levels than healthy controls (p=0.003). Homocysteine levels of both well-controlled (9.8±6.4 µmol/L) and poorly controlled (9.2±5.6 µmol/L) patients were higher compared with controls (5.8±1.8 µmol/L, p<0.01). The mean platelet volume of well-controlled patients (9.5±1.1 fL) was higher than that of poorly controlled patients and controls (8.9±0.8 fL, p=0.024 and 7.7±0.6 fL, p<0.001, respectively). CONCLUSION: Lower high-density lipoprotein cholesterol and higher homocysteine and mean platelet volume levels were detected in phenylketonuriapatients. In particular, these changes were more prominent in well-controlled patients. We conclude that phenylketonuriapatients might be at risk for atherosclerosis, and therefore screening for atherosclerotic risk factors should be included in the phenylketonuria therapy and follow-up in addition to other parameters.
Authors: Priscila Nicolao Mazzola; Tatiele Nalin; Kamila Castro; Margreet van Rijn; Terry G J Derks; Ingrid D S Perry; Alberto Scofano Mainieri; Ida Vanessa D Schwartz Journal: Mol Genet Metab Rep Date: 2016-01-09
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Authors: Rachna Manek; Yao V Zhang; Patricia Berthelette; Mahmud Hossain; Cathleen S Cornell; Joseph Gans; Gulbenk Anarat-Cappillino; Sarah Geller; Robert Jackson; Dan Yu; Kuldeep Singh; Sue Ryan; Dinesh S Bangari; Ethan Y Xu; Sirkka R M Kyostio-Moore Journal: Sci Rep Date: 2021-11-24 Impact factor: 4.379