25 Hydroxy Vitamin D Level, Bone Health, Vitamin D and Calcium Intake in Chilean Patients with Phenylketonuria and Hyperphenylalaninemias

Leiva, Cinthya; Bravo, Paulina; Arias, Carolina; Cabello, Juan Francisco; Leal-Witt, María Jesús; Salazar, Fernanda; Cornejo, Verónica

doi:10.1590/2326-4594-jiems-2021-0004

Cited by 3 publications

References 39 publications

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Vitamin Status in Patients with Phenylketonuria: A Systematic Review and Meta-Analysis

Bokayeva,

Jamka,

Walkowiak

et al. 2024

IJMS

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The published data on the vitamin status of patients with phenylketonuria (PKU) is contradictory; therefore, this systematic review and meta-analysis evaluated the vitamin status of PKU patients. A comprehensive search of multiple databases (PubMed, Web of Sciences, Cochrane, and Scopus) was finished in March 2024. The included studies compared vitamin levels between individuals diagnosed with early-treated PKU and healthy controls while excluding pregnant and lactating women, untreated PKU or hyperphenylalaninemia cases, control groups receiving vitamin supplementation, PKU patients receiving tetrahydrobiopterin or pegvaliase, and conference abstracts. The risk of bias in the included studies was assessed by the Newcastle–Ottawa scale. The effect sizes were expressed as standardised mean differences. The calculation of effect sizes with 95% CI using fixed-effects models and random-effects models was performed. A p-value < 0.05 was considered statistically significant. The study protocol was registered in the PROSPERO database (CRD42024519589). Out of the initially identified 11,086 articles, 24 met the criteria. The total number of participants comprised 770 individuals with PKU and 2387 healthy controls. The meta-analyses of cross-sectional and case–control studies were conducted for vitamin B12, D, A, E, B6 and folate levels. PKU patients demonstrated significantly higher folate levels (random-effects model, SMD: 1.378, 95% CI: 0.436, 2.320, p = 0.004) and 1,25-dihydroxyvitamin D concentrations (random-effects model, SMD: 2.059, 95% CI: 0.250, 3.868, p = 0.026) compared to the controls. There were no significant differences in vitamin A, E, B6, B12 or 25-dihydroxyvitamin D levels. The main limitations of the evidence include a limited number of studies and their heterogeneity and variability in patients’ compliance. Our findings suggest that individuals with PKU under nutritional guidance can achieve a vitamin status comparable to that of healthy subjects. Our study provides valuable insights into the nutritional status of PKU patients, but further research is required to confirm these findings and explore additional factors influencing vitamin status in PKU.

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Vitamin Status in Patients with Phenylketonuria: A Systematic Review and Meta-Analysis

Bokayeva,

Jamka,

Walkowiak

et al. 2024

IJMS

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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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Vitamin D and Inborn Errors of Metabolism

Silva¹,

Leal-Witt²,

Hamilton³

et al. 2023

Vitamin D, Vitamin D Supplements and Health - Current Perspectives [Working Title]

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Inborn errors of metabolism are produced by an enzymatic alteration that can be fatal or leave serious neurological sequelae. Some of these conditions require specific nutritional treatment to reverse the clinical symptoms. For phenylketonuria, patients must restrict the intake of phenylalanine; for glucose transporter deficiency syndrome type 1, the treatment is a ketogenic diet; and for classic galactosemia, galactose must be eliminated from the diet. Due to nutritional restrictions, there is an increased risk of deficiency of vitamin D and calcium, which could have an effect on plasma vitamin D levels and cause alterations in bone mineral density (BMD) among children and long-term treated patients. According to scientific evidence, the risks of vitamin D deficiency among these patients are similar to those among healthy persons. While the etiology of lower BMD is not entirely clear, it is attributed to a joint effect of underlying pathology and metabolic changes generated by diet therapy. Long-term follow-up is suggested, in addition to verifying that recommendations o critical nutrients are covered. Timely evaluation of plasmatic levels of vitamin D and BMD is suggested to avoid deficiencies or excesses and to grant a better quality of life to persons with these pathologies.

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25 Hydroxy Vitamin D Level, Bone Health, Vitamin D and Calcium Intake in Chilean Patients with Phenylketonuria and Hyperphenylalaninemias

Cited by 3 publications

References 39 publications

Vitamin Status in Patients with Phenylketonuria: A Systematic Review and Meta-Analysis

Vitamin Status in Patients with Phenylketonuria: A Systematic Review and Meta-Analysis

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

Vitamin D and Inborn Errors of Metabolism

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