The association of serum lipids, lipoproteins and apolipoproteins with selected trace elements and minerals in phenylketonuric patients on diet

Schulpis, Kleopatra H.; Karakonstantakis, Theodor; Bartzeliotou, Αnastasia; Karikas, George A.; Papassotiriou, Ioannis

doi:10.1016/j.clnu.2003.09.006

Cited by 38 publications

(26 citation statements)

References 22 publications

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“…Similar results have been found previously [18], [27], [28]. Moreover, an inverse relation of animal to vegetable fat was observed in our PKU group (42.7% animal fat/56.9% vegetable fat).…”

Section: Discussionsupporting

confidence: 93%

Metabolomics of Dietary Fatty Acid Restriction in Patients with Phenylketonuria

Mütze¹,

Beblo²,

Kortz

et al. 2012

PLoS ONE

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BackgroundPatients with phenylketonuria (PKU) have to follow a lifelong phenylalanine restricted diet. This type of diet markedly reduces the intake of saturated and unsaturated fatty acids especially long chain polyunsaturated fatty acids (LC-PUFA). Long-chain saturated fatty acids are substrates of mitochondrial fatty acid oxidation for acetyl-CoA production. LC-PUFA are discussed to affect inflammatory and haemostaseological processes in health and disease. The influence of the long term PKU diet on fatty acid metabolism with a special focus on platelet eicosanoid metabolism has been investigated in the study presented here.Methodology/Principal Findings12 children with PKU under good metabolic control and 8 healthy controls were included. Activated fatty acids (acylcarnitines C6–C18) in dried blood and the cholesterol metabolism in serum were analyzed by liquid chromatographic tandem mass spectrometry (LC-MS/MS). Fatty acid composition of plasma glycerophospholipids was determined by gas chromatography. LC-PUFA metabolites were analyzed in supernatants by LC-MS/MS before and after platelet activation and aggregation using a standardized protocol. Patients with PKU had significantly lower free carnitine and lower activated fatty acids in dried blood compared to controls. Phytosterols as marker of cholesterol (re-) absorption were not influenced by the dietary fatty acid restriction. Fatty acid composition in glycerophospholipids was comparable to that of healthy controls. However, patients with PKU showed significantly increased concentrations of y-linolenic acid (C18:3n-6) a precursor of arachidonic acid. In the PKU patients significantly higher platelet counts were observed. After activation with collagen platelet aggregation and thromboxane B2 and thromboxane B3 release did not differ from that of healthy controls.Conclusion/SignificanceLong-term dietary fatty acid restriction influenced the intermediates of mitochondrial beta-oxidation. No functional influence on unsaturated fatty acid metabolism and platelet aggregation in patients with PKU was detected.

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“…Similar results have been found previously [18], [27], [28]. Moreover, an inverse relation of animal to vegetable fat was observed in our PKU group (42.7% animal fat/56.9% vegetable fat).…”

Section: Discussionsupporting

confidence: 93%

Metabolomics of Dietary Fatty Acid Restriction in Patients with Phenylketonuria

Mütze¹,

Beblo²,

Kortz

et al. 2012

PLoS ONE

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“…Previous studies of total cholesterol levels in PKU patients have shown inconsistent results. While in some studies lower cholesterol levels were measured [9, 39], we and others found higher cholesterol levels in PKU patients [40]. Lower HDLc levels have been described before in children and adults with PKU [6, 41].…”

Section: Discussionsupporting

confidence: 56%

The cardiovascular phenotype of adult patients with phenylketonuria

Azabdaftari

Giet

Schuchardt

et al. 2019

Orphanet J Rare Dis

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Background Patients with Phenylketonuria (PKU) are exposed to multiple cardiovascular risk factors, but the clinical significance of these abnormalities is yet unknown. The purpose of this study was to characterize the cardiovascular phenotype in adult patients with PKU by clinical and dietary data, measurements of biochemical markers, and non-invasive examination of vascular functions. Results Twenty-three adult patients with PKU (age: 18–47 y; 30.8 ± 8.4 y) and 28 healthy controls (age: 18–47 y; 30.1 ± 9.1 y) were included in this study. PKU patients had significantly higher systolic and diastolic blood pressure, increased resting heart rate and a higher body mass index. Total cholesterol and non-HDL cholesterol levels were significantly increased in PKU patients, whereas plasma levels of HDL cholesterol and its subfraction HDL2 (but not HDL3) were significantly decreased. The inflammatory markers C-reactive protein and serum amyloid A protein and the serum oxidative stress marker malondialdehyde were significantly higher in patients with PKU. Venous occlusion plethysmography showed marked reduction in post-ischemic blood flow and the carotid to femoral pulse wave velocity was significantly increased demonstrating endothelial dysfunction and increased vascular stiffness. Conclusions This study shows that the cardiovascular phenotype of adult PKU patients is characterized by an accumulation of traditional cardiovascular risk factors, high levels of inflammatory and oxidative stress markers, endothelial dysfunction and vascular stiffness. These data indicate the need for early cardiovascular risk reduction in patients with PKU.

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“…[22] However, in our study there was no significant correlation between Phe levels and LDL or high density lipoprotein-cholesterol. This result suggests that low cholesterol intake due to low-protein diet may be the cause of hypocholesterolemia (olive oil and cream cheese were the only sources of lipid intake), rather than a role of Phe in the inhibition of cholesterol biosynthesis.…”

Section: Discussioncontrasting

confidence: 73%

Influence of phenylketonuria's diet on dimethylated arginines and methylation cycle

et al. 2017

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Phenylketonuria's (PKU) treatment based on low natural protein diet may affect homocysteine (Hcys) metabolic pathway. Hcys alteration may be related to the methylation of arginine to asymmetric dimethylarginine (ADMA) and symmetric dimethylarginine (SDMA), which both modify nitric oxide production. The aim of this work is to evaluate the status of Hcys formation methylation cycle and ADMA and SDMA levels in patients with PKU in order to establish a potential relationship.Forty-two early diagnosed PKU patients under dietary treatment and good adherence to their diets were enrolled in this cross-sectional study. Their nutritional and biochemical profile, as well as Hcys synthesis status, ADMA and SDMA levels were analyzed and compared with a control group of 40 healthy volunteers. ADMA and SDMA were determined by high-performance liquid chromatography system coupled to triple quadrupole mass spectrometer.In this study, 23 classic PKU, 16 moderate PKU, and 3 mild HPA were enrolled. The median age was 10 years old. Median ADMA, SDMA, and Hcys concentration levels (5.1 μM [2.3–25.7], 0.35 μM [0.18–0.57], 0.43 μM [0.26–0.61], respectively) were lower in patients with PKU (P < .001 for ADMA and SDMA) whereas vitamin B12 and folate levels (616 pg/mL [218–1943] and 21 ng/mL [5–51], respectively) were higher comparing with controls. Statistically significant correlations were found between ADMA, and Phe (r = −0.504, P = .001) and Hcys (r = −0.458, P = .037) levels. Several nutrition biomarkers, such as prealbumin, 25-hydroxy vitamin D, selenium, and zinc, were below the normal range.Our study suggests that patients with PKU suffer from poor methylation capacity. Restriction of natural proteins in addition to high intake of vitamin B12 and folic acid supplementation in the dietary products, produce an impairment of methylation cycle that leads to low Hcys and ADMA levels. As a result, methylated compounds compete for methyl groups, and there is an impairment of methylation cycle due to low Hcys levels, which is related to the lack of protein quality, despite of elevated concentrations of cofactors.

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The association of serum lipids, lipoproteins and apolipoproteins with selected trace elements and minerals in phenylketonuric patients on diet

Cited by 38 publications

References 22 publications

Metabolomics of Dietary Fatty Acid Restriction in Patients with Phenylketonuria

Metabolomics of Dietary Fatty Acid Restriction in Patients with Phenylketonuria

The cardiovascular phenotype of adult patients with phenylketonuria

Influence of phenylketonuria's diet on dimethylated arginines and methylation cycle

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