Protein status in phenylketonuria: A scoping review

Firman, Sarah; Ramachandran, Radha; Whelan, Kevin; Witard, Oliver C.; O’Keeffe, Majella

doi:10.1016/j.clnu.2022.02.010

Cited by 6 publications

(6 citation statements)

References 84 publications

(205 reference statements)

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“…In agreement, some studies suggest that overweight is particularly a problem for uncontrolled patients, showing a correlation between blood Phe concentrations and BMI [ 129 , 130 , 131 ]. However, when evaluating overweight and obesity in PKU, body composition generates a better picture of a patient’s health than BMI by assessing the proportion of body fat versus lean muscle mass [ 132 , 133 ]. In comparison with an age- and gender-matched control group, Barta et al demonstrated that body fat in female adult patients with PKU was higher, whereas muscle mass was lower despite the BMI being similar between both groups [ 134 ].…”

Section: Resultsmentioning

confidence: 99%

“…In addition, some studies have suggested that the high acid load of protein substitutes/medical foods may increase the urinary extraction of calcium, magnesium and sulphate, which would favour the use of synthetic proteins with a lower renal acid load or glycomacropeptide-based products, although their impact on the bone health of adults with PKU remains to be determined [ 144 , 147 ]. Similar to assessing obesity, it is important to measure the body composition of adults on a protein-restricted diet, as impaired bone health can also be related to deficits in muscle mass [ 133 , 147 ]. Statement #17 Consensus For some adults with PKU, protein substitutes/medical foods can cause gastrointestinal discomfort, especially when mitigation strategies are not followed.

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Section: Resultsmentioning

confidence: 99%

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Expert Consensus on the Long-Term Effectiveness of Medical Nutrition Therapy and Its Impact on the Outcomes of Adults with Phenylketonuria

Rocha,

Ahring,

Bausell

et al. 2023

Nutrients

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Many adults with phenylketonuria (PKU) rely on medical nutrition therapy (MNT; low phenylalanine (Phe) diet with protein substitutes/medical foods) to maintain blood Phe concentrations within recommended ranges and prevent PKU-associated comorbidities. Despite disease detection through newborn screening and introduction of MNT as early as birth, adherence to MNT often deteriorates from childhood onwards, complicating the assessment of its effectiveness in the long term. Via a modified Delphi process, consensus (≥70% agreement) was sought on 19 statements among an international, multidisciplinary 13-member expert panel. After three iterative voting rounds, the panel achieved consensus on 17 statements related to the limitations of the long-term effectiveness of MNT (7), the burden of long-term reliance on MNT (4), and its potential long-term detrimental health effects (6). According to the expert panel, the effectiveness of MNT is limited in the long term, is associated with a high treatment burden, and demonstrates that adults with PKU are often unable to achieve metabolic control through dietary management alone, creating an unmet need in the adult PKU population.

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Section: Resultsmentioning

confidence: 99%

…”

Section: Resultsmentioning

confidence: 99%

Expert Consensus on the Long-Term Effectiveness of Medical Nutrition Therapy and Its Impact on the Outcomes of Adults with Phenylketonuria

Rocha,

Ahring,

Bausell

et al. 2023

Nutrients

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“…An analysis of the diets of the healthy control and PKU patient showed a significant difference in protein intake. Usually, a diet of a PKU patient is similar to controls [12]; however, some studies show that the diet in PKU male patients contains less protein than healthy control [13]. In the analyzed cases, significant differences were recorded for energy levels obtained from sugars.…”

Section: Discussionmentioning

confidence: 98%

Preliminary analysis of oral and gut microbiome of an elderly patient with late-diagnosed phenylketonuria

Ostrowska,

Komoń-Janczara,

Vogt

et al. 2023

Ann Agric Environ Med.

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Phenylketonuria (PKU) is a metabolic and genetic disorder caused by a phenylalanine hydroxylase (PAH) gene deficiency that raises Phe levels in organs. Dietary therapy involves an elimination diet and Phe-free items, which may alter microbiota. The study examined the oral and intestinal microbiomes of a 63-year-old PKU patient and a control man, living in rural areas. iSeq100 (Illumina) sequenced the stool and oral 16S rRNA gene V3-V4 region. PKU guts had more Firmicutes and fewer Bacteroidetes than control. Clostridia predominated in PKU, while Bacteroidia dominated in control. Oral Bacteroidetes. Firmicutes, Proteobacteria, and Fusobacteria phyla were similar in both men. The microbiome may differ from those fed a Phe-free diet from birth due to late diagnosis and treatment of PKU. Due to the age of the 63-year-old patient's and late therapy, the results differ from earlier studies. No study has compared an older PKU patient's gut and oral microbiomes.

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“…A recent review concluded that there are inconsistent data about the effects of protein restriction or high Phe levels on muscle mass and function in patients with PKU. Noteworthy is that only seven studies used dual-energy X-ray absorptiometry to assess muscle mass [12].…”

Section: Introductionmentioning

confidence: 99%

Muscle and Bone Health in Young Chilean Adults with Phenylketonuria and Different Degrees of Compliance with the Phenylalanine Restricted Diet

Rojas-Agurto,

Leal-Witt,

Arias

et al. 2023

Nutrients

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There are concerns about muscle and bone health in patients with Phenylketonuria (PKU). Our aim was to compare muscle mass, function, and bone health among young adults with PKU who maintained or suspended dietary treatment. Methods: Three groups were considered—PKU-1: 10 patients who used a protein substitute (PS) without phenylalanine (Phe); PKU-2: 14 patients who used the PS without Phe until eighteen years old and then practiced mostly a vegan diet; and 24 matched healthy controls. A 24 h recall survey, blood parameters, body composition and bone mineral density through DEXA, rectus femoris thickness by ultrasound, hand grip strength, submaximal exercise test, and walking speed were assessed. Results: PKU-1 patients had lower hand grip strength than their matched controls, but no other differences. Compared to controls, the PKU-2 group had lower fat-free mass (p = 0.01), less spine and femoral bone mineral density (p = 0.04 and p < 0.01, respectively), and peak workload on the incremental test (p = 0.03). When comparing PKU groups, blood Phe levels were significantly lower in the PKU-1 group (p = 0.02). Conclusions: Among PKU patients, abandoning the dietary treatment and maintaining high blood Phe concentrations could be deleterious for muscles and bones. However, we cannot discard other causes of bone and muscle damage in these patients.

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Protein status in phenylketonuria: A scoping review

Cited by 6 publications

References 84 publications

Expert Consensus on the Long-Term Effectiveness of Medical Nutrition Therapy and Its Impact on the Outcomes of Adults with Phenylketonuria

Expert Consensus on the Long-Term Effectiveness of Medical Nutrition Therapy and Its Impact on the Outcomes of Adults with Phenylketonuria

Preliminary analysis of oral and gut microbiome of an elderly patient with late-diagnosed phenylketonuria

Muscle and Bone Health in Young Chilean Adults with Phenylketonuria and Different Degrees of Compliance with the Phenylalanine Restricted Diet

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