PKU patients on a relaxed diet may be at risk for micronutrient deficiencies

Rohde, Carmen; Teeffelen-Heithoff, A von; Thiele, Alena Gerlinde; Arélin, Maria; Mütze, Ulrike; Kiener, Christl; Gerloff, J.; Baerwald, Christoph; S, Schultz; Heller, C.; Müller, Anja; Kieß, Wieland; Beblo, Skadi

doi:10.1038/ejcn.2013.218

Cited by 31 publications

(46 citation statements)

References 22 publications

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“…VitD status was evaluated by measuring the serum vitamin 25-OH D2 + D3 as advised [21]. Serum 25-OH vitamin D2 + D3 levels were below the reference range in 14% of patients, fully comparable to individuals in the general population [20,21,22] and patients with PKU who are off diet in whom concentrations below reference range are also frequently observed [23]. Of the 2 patients showing concentrations in the range associated with clinical symptoms (<25 nmol/L [19,20]), 1 patient had a normal intake of natural protein.…”

Section: Discussionmentioning

confidence: 99%

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: Discussionmentioning

confidence: 99%

Micronutrients, Essential Fatty Acids and Bone Health in Phenylketonuria

et al. 2017

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“…Patients were asked to send in a dried blood card for measurement of Phe after completion of the food record. Macro- and micronutrient intake was calculated based on the food records, using the Food Control Management System “DIÄT-2000” software (Soft&Hard, D. Beyer) [12]. Reference values for nutrient intake were based on the 2015 D-A-CH recommendations [13].…”

Section: Methodsmentioning

confidence: 99%

“…They frequently relax their protein-restricted diet and reduce AAM intake below prescribed amounts. Commonly, patients maintain their habitual dietary practices with a variable degree of natural protein restriction despite relaxed AAM intake, which constitutes a risk for nutritional imbalances and deficiencies [11,12]. In the present prospective cross-sectional study, eating habits, nutritional status, and selected nutritional biomarkers were evaluated in a cohort of adult PKU patients, in relation to their treatment compliance regarding AAM intake.…”

Section: Introductionmentioning

confidence: 99%

Effects of Inadequate Amino Acid Mixture Intake on Nutrient Supply of Adult Patients with Phenylketonuria

Hochuli¹,

Bollhalder²,

Thierer³

et al. 2017

Ann Nutr Metab

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Background: Adult phenylketonuria (PKU) patients often reduce their intake of amino acid mixture (AAM) to less than the prescribed amounts. Effects of reduced AAM intake on nutrient supply were evaluated. Methods: Nutrient intake was calculated in 20 adult PKU patients based on a structured food record and complemented by laboratory assessment of nutritional status. Patients were classified into 2 groups, (A) regular AAM intake, or (B) AAM intake below calculated requirements. Results: Group B consumed a higher proportion of natural protein (60 ± 23 vs. 33 ± 12%, p = 0.002); however, the total protein intake was below the recommended amounts in 60% of patients in group B versus 7% in group A (p = 0.03). Fat intake was higher in group B (39 ± 9% of energy vs. 31 ± 6%, p = 0.03), mainly from saturated fats. Selenium, folate, and vitamin B12 intake was below the recommended intake in group B. However, serum concentrations of these analytes remained within the normal range in both groups, although vitamin B12 levels were lower in group B. Plasma tyrosine correlated with AAM intake, and hydroxyproline correlated with the amount of natural protein consumed. Conclusion: Relaxed AAM intake resulted in insufficient nutrient supply, despite a compensatory increase in consumption of natural protein. Care needs to be taken to ensure adequate nutrition in adults with PKU.

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“…Rohde et al examined LNAA status along with other nutrients in a PKU patient sample similar to our own study sample by evaluating the total protein intake in those who consumed medical food vs those who did not. The researchers found no significant difference in the total protein intake and no deficit in one LNAA intake, which is consistent with our overall findings.…”

Section: Discussionmentioning

confidence: 98%

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

et al. 2019

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Background Intake of large neutral amino acids (LNAA) may inhibit phenylalanine (PHE) transport across the blood brain barrier and assist with blood PHE control in patients with phenylketonuria (PKU). We evaluated the interrelationship between LNAA in plasma and diet on Phe:Tyr (P:T) ratio in patients with PKU and the influence of dietary factors on plasma LNAA markers. Methods Plasma amino acid values and 3‐day food record analysis from two studies (34 male/30 female; age 4.6‐47 years) were examined. For pediatrics (<18 years) and adults (≥18 years) the relationship between P:T ratio, plasma LNAA, and dietary intake patterns were investigated. Results Dietary factors influencing P:T ratio included intake of total protein (g/kg), medical food (MF) protein (g/kg, % below Rx), and LNAA (g) in the full cohort (P < .05). Associations were found between plasma valine and other dietary and plasma LNAA in pediatrics (P < .05) and plasma LNAA with dietary LNAA intake in adults (P = .019). Plasma P:T ratio was inversely associated with plasma LNAA concentrations in both age groups (P < .05). Aside from histidine in pediatrics (P = .024), plasma LNAA did not differ by having plasma PHE levels within or above the therapeutic range (120‐360 μmol/L). Plasma LNAA in both age groups was similar to reported healthy control values. Conclusion P:T ratio is significantly tied to dietary LNAA, adherence to MF Rx, and plasma LNAA concentrations. Additionally, P:T ratio and valine may be effective clinical proxies for determining LNAA metabolic balance and LNAA quality of the diet in patients with PKU.

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PKU patients on a relaxed diet may be at risk for micronutrient deficiencies

Cited by 31 publications

References 22 publications

Micronutrients, Essential Fatty Acids and Bone Health in Phenylketonuria

Micronutrients, Essential Fatty Acids and Bone Health in Phenylketonuria

Effects of Inadequate Amino Acid Mixture Intake on Nutrient Supply of Adult Patients with Phenylketonuria

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

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