Biotin recycling impairment in phenylketonuric children with seborrheic dermatitis

Schulpis, Kleopatra H.; Nyalala, John O.; Papakonstantinou, Evangelos; Leondiadis, Leon; Livaniou, Evangelia; Ithakisios, Dionyssios; Georgala, S.

doi:10.1046/j.1365-4362.1998.00603.x

Cited by 6 publications

(7 citation statements)

References 14 publications

(16 reference statements)

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“…A study reported that high phenylalanine levels can inhibit biotinidase activity, causing some skin conditions [20], but the association between the two has not been examined. Observational data from NBS Connect, may support this hypothesis and the need for additional research is indicated to confirm these observations.…”

Section: Discussionmentioning

confidence: 99%

Development of newborn screening connect (NBS connect): a self-reported patient registry and its role in improvement of care for patients with inherited metabolic disorders

Osara

Coakley

Devarajan

et al. 2017

Orphanet J Rare Dis

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BackgroundNewborn Screening Connect (NBS Connect) is a web-based self-reported patient registry and resource for individuals and families affected by disorders included in the newborn screening panel. NBS Connect was launched in 2012 by Emory University after years of planning and grassroots work by professionals, consumers, and industry. Individuals with phenylketonuria (PKU), maple syrup urine disease (MSUD) or tyrosinemia (TYR) have been recruited through distribution of outreach materials, presentations at parent organization meetings and direct recruitment at clinic appointments. Participants complete online profiles generating data on diagnosis, treatment, symptoms, outcomes, barriers to care, and quality of life. Resources such as education materials, information on the latest research and clinical trials, recipes, interactive health tracking systems, and professional support tools are described. In addition, to examine the ability of NBS Connect to generate data that guides hypothesis-driven research, data pertaining to age at diagnosis, bone health, and skin conditions in individuals with PKU were assessed. The objective of this paper is to describe the development of NBS Connect and highlight its data, resources and research contributions.ResultsIn September 2016, NBS Connect had 442 registered participants: 314 (71%) individuals with PKU, 68 (15%) with MSUD, 20 (5%) with TYR, and 40 (9%) with other disorders on the NBS panel. Age at diagnosis was less than 4 weeks in 285 (89%) of 319 respondents to this question and between 1 month and 14 years in 29 (9%) individuals. Of 216 respondents with PKU, 33 (15%) had a DXA scan in the past year. Of 217 respondents with PKU, 99 (46%) reported at least one skin condition.ConclusionsNBS Connect was built and refined with feedback from all stakeholders, including individuals with inherited metabolic disorders. Based on patient-reported data, future studies can be initiated to test hypotheses such as the relationship between PKU and skin conditions. Patient registries like NBS Connect can inform hypothesis-driven research, contributing to knowledge generation and following the current trend in moving from traditional medicine towards evidence-based practice. NBS Connect will help clinicians understand long-term outcomes of rare disorders, contributing to better patient care and quality of life.

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Section: Discussionmentioning

confidence: 99%

Development of newborn screening connect (NBS connect): a self-reported patient registry and its role in improvement of care for patients with inherited metabolic disorders

Osara

Coakley

Devarajan

et al. 2017

Orphanet J Rare Dis

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“…The included studies were published from 1994 [38] to 2023 [39], and their characteristics are detailed in Table 1. Four studies were conducted in Greece [25,27,40,41], three in Turkey [31,42,43], three in Spain [32,44,45], two in Austria [26,46], two in Chile [39,47], two in Japan [29,30], two in the United Kingdom [48,49], two in the USA [38,50], and one each in Germany [51], France [52], Poland [28], and Switzerland [53]. All studies, except for one case-control study [26], were cross-sectional and compared individuals with PKU to healthy controls.…”

Section: Study Characteristicsmentioning

confidence: 99%

“…Five studies assessed children [25,27,28,31,40], one studied adolescents [43], children and adolescents were included in nine studies [26,32,38,41,42,45,46,50,51,53], six studies examined adults [29,30,39,48,49,52], and the remaining two studies had a mixed population [44,47]. Most studies included males and females [24,[26][27][28][29][30]37,38,[40][41][42]45,46,[49][50][51][52], and while it was not explicitly stated in other studies [25,27,40,44,45,48,49], they likely involved both male and female participants. Table 2<...…”

Section: Study Characteristicsmentioning

confidence: 99%

“…The results of the sensitivity analysis are shown in Figure S10, and the results of cumulative analysis are presented in Figure S11. The exclusion of studies considered to have a high risk of bias did not alter the findings 1 -mean ± standard deviation; 2 -patients under diet treatment; 3 -patients who discontinued the protein substitution at 18 years of age; 4 -serum; 5 -folic acid; 6 -ng/mL; 7 -data were received from authors; 8 -25(OH)D; 9 -pg/mL; 10 -all PKU patients; 11 -patients with high adherence; 12 -patients with low adherence; 13 -nmol/L; 14 -median (min-max); 15 -pmol/L; 16 -mean ± standard error of the mean; 17 -cholecalciferol; 18 -µmol/L; 19 -patients followed a Phe-restrictive diet in childhood and stopped it at the average age of 6 years; 20 -plasma; 21 -well-controlled; 22 -poorly controlled; 23 -patients exclusively received phenylalanine-restricted diets; after the age of 20 years, restrictions of phenylalanine differed greatly among patients; 24 -25(OH)D3; 25 -patients with phenylalanine levels in the blood kept within the recommended values; 26 -until the age of 15 years, patients received phenylalanine-restricted diets with phenylalanine-free milk; thereafter, the restrictions of phenylalanine varied among the patients; 27 -female participants; 28 -male participants; 29 -data presented in nmol/g prot; 30 -27 had acceptable dietary control and 15 had poor dietary compliance; 31 -patients were requested to discontinue their vitamin supplementation for 30 days before the study; 32 -red blood cells folate; 33 -median (interquartile range); 34 -phenylalanine tolerance < 12 mg phenylalanine•kg −1 •d −1 ; 35 -phenylalanine tolerance > 12 mg phenylalanine•kg −1 •d −1 ); 36 -strict diet; 37 -relaxed diet; 38 -µg/L; 39 -no info about measurement material; 40 -ng/L; 41 -erythrocyte tocopherol;…”

Section: Comparison Of Vitamin D Levelsmentioning

confidence: 99%

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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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“…Biotin (B7) is used for the treatment of diabetes [123] and in the prevention of some birth defects [124]. It plays a vital role in the treatment of cholesterol [125], brittle fingernails [126], seborrheic dermatitis [127], and hair loss.…”

Section: Functionmentioning

confidence: 99%

Sources and Health Benefits of Functional Food Components

Shaikh¹

2022

Current Topics in Functional Food

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Functional foods are the foods claimed that have additional health benefits beyond their basic nutritional values, and functional food components are bioactive, potentially beneficial compounds that are found either naturally in foods or added to them as functional ingredients. Some important functional food components are carotenoids, isothiocyanates, soluble and insoluble dietary fiber, phenolic acids, fatty acids, plant stanols and sterols, flavonoids, polyols, soy protein, prebiotics and probiotics, phytoestrogens, vitamins, and minerals. Most of the functional food components occur mainly in plant foods (whole grains, fruits, and vegetables), however, few functional foods components, such as omega-3, -6, and -9 polyunsaturated fatty acids are also found in animal products (e.g. milk, fermented milk products, and cold-water fish). Evidence suggested that there is a relationship between functional food components and health benefits. Functional food components can be used for the treatment and prevention of different diseases. Biologically active functional food components can reduce the risk of certain non-communicable diseases, such as cancer, type II diabetes, cardiovascular diseases, osteoporosis, inflammation, and lowering of blood cholesterol. Thus, people should consume a wide variety of foods to assure the ingestion of functional food components in their body, such as fatty acids, fiber, carotenoids, flavonoids, prebiotics and probiotics, vitamins, and mineral.

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Biotin recycling impairment in phenylketonuric children with seborrheic dermatitis

Cited by 6 publications

References 14 publications

Development of newborn screening connect (NBS connect): a self-reported patient registry and its role in improvement of care for patients with inherited metabolic disorders

Development of newborn screening connect (NBS connect): a self-reported patient registry and its role in improvement of care for patients with inherited metabolic disorders

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

Sources and Health Benefits of Functional Food Components

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