High Dietary Folic Acid and High Plasma Folate in Children and Adults with Phenylketonuria

Stølen, Linn Helene; Lilje, R.; Jørgensen, Jens Veilemand; Bliksrud, Yngve Thomas; Almaas, Runar

doi:10.1007/8904_2013_260

Cited by 12 publications

(16 citation statements)

References 16 publications

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“…Our findings are confirmed by the study by Stolen et al [38] reporting similar results. As there is discussion on the safety of high concentrations [38,39,] it deserves due consideration to lower folic acid amounts in AAM. For example, high levels of folic acid have been associated with interference in DNA and histone methylation, decreased natural killer cell toxicity, an increased risk of cognitive impairment in the elderly and facilitating progression of preneoplastic cells and subclinical cancers.…”

Section: Discussionsupporting

confidence: 83%

“…Because all patients off diet showed serum concentrations within normal range, elevated serum concentrations appear to be due to fortified AAM [37]. Our findings are confirmed by the study by Stolen et al [38] reporting similar results. As there is discussion on the safety of high concentrations [38,39,] it deserves due consideration to lower folic acid amounts in AAM.…”

Section: Discussionsupporting

confidence: 83%

“…For example, high levels of folic acid have been associated with interference in DNA and histone methylation, decreased natural killer cell toxicity, an increased risk of cognitive impairment in the elderly and facilitating progression of preneoplastic cells and subclinical cancers. Because this micronutrient is highly available in several AAM, decreasing the concentration of folic acid in these AAM may be advisable [38,39]. …”

Section: Discussionmentioning

confidence: 99%

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Micronutrients, Essential Fatty Acids and Bone Health in Phenylketonuria

et al. 2017

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Introduction: In phenylketonuria (PKU), a natural protein-restricted dietary treatment prevents severe cognitive impairment. Nutrient deficiencies may occur due to strict diet. This study is aimed at evaluating the dietary intake and blood concentrations of micronutrients and essential fatty acids (FA), bone mineral density (BMD) and fracture history in patients on long-term dietary treatment. Methods: Sixty early diagnosed Dutch patients (aged 1-39 years) were included in a multi-center cross-sectional study. Their dietary intake, blood concentrations of micronutrients, FA, fracture history and BMD were assessed. Results: Selenium dietary intake and serum concentrations were low in 14 and 46% of patients, respectively. The serum 25-OH vitamin D2 + D3 concentration was low in 14% of patients while 20% of patients had a low vitamin D intake. Zinc serum concentrations were below normal in 14% of patients, despite adequate intake. Folic acid serum concentrations and intake were elevated. Despite safe total protein and fat intake, arginine plasma concentrations and erythrocyte eicosapentaenoic acid were below reference values in 19 and 6% of patients, respectively. Low BMD (Z-score <-2) was slightly more prevalent in patients, but the lifetime fracture prevalence was comparable to the general population. Conclusions: Dutch patients with PKU on long-term dietary treatment have a near normal nutrient status. Supplementation of micronutrients of which deficiency may be deleterious (e.g., vitamin D and selenium) should be considered. BMD warrants further investigation.

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Section: Discussionsupporting

confidence: 83%

Section: Discussionsupporting

confidence: 83%

Section: Discussionmentioning

confidence: 99%

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Micronutrients, Essential Fatty Acids and Bone Health in Phenylketonuria

et al. 2017

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“…In addition, some studies have demonstrated high folate levels in patients associated with the high folate content of Phe-free L-amino acid supplements with added vitamins and minerals [ 118 , 127 , 130 ]. The long- term consequences of folate overload in PKU have not been assessed.…”

Section: Treatment Goals and Follow-upmentioning

confidence: 99%

The complete European guidelines on phenylketonuria: diagnosis and treatment

Wegberg

MacDonald

Ahring

et al. 2017

Orphanet J Rare Dis

596

885

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Phenylketonuria (PKU) is an autosomal recessive inborn error of phenylalanine metabolism caused by deficiency in the enzyme phenylalanine hydroxylase that converts phenylalanine into tyrosine. If left untreated, PKU results in increased phenylalanine concentrations in blood and brain, which cause severe intellectual disability, epilepsy and behavioural problems. PKU management differs widely across Europe and therefore these guidelines have been developed aiming to optimize and standardize PKU care. Professionals from 10 different European countries developed the guidelines according to the AGREE (Appraisal of Guidelines for Research and Evaluation) method. Literature search, critical appraisal and evidence grading were conducted according to the SIGN (Scottish Intercollegiate Guidelines Network) method. The Delphi-method was used when there was no or little evidence available. External consultants reviewed the guidelines. Using these methods 70 statements were formulated based on the highest quality evidence available. The level of evidence of most recommendations is C or D. Although study designs and patient numbers are sub-optimal, many statements are convincing, important and relevant. In addition, knowledge gaps are identified which require further research in order to direct better care for the future.

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“…According to some authors, PKU and HPA patients may receive excessive amounts of vitamin B 12 and folate (40)(41)(42). The risks of possible side effects from such a status, and particularly in relation to tumor growth are often discussed in literature.…”

Section: Discussionmentioning

confidence: 98%