Publications

Journal Article Epublish

PubMed: 42280409 DOI: 10.3390/nu18111764

Oral Mycobiome Alterations in Children with Phenylketonuria: Associations with Dietary Intake and Metabolic Context-A Pilot Study.

Nutrients 18(11)

Authors: Małgorzata Ostrowska, Elwira Komoń-Janczara, Bożena Mikołuć, Katarzyna Iłowiecka, Justyna Jarczak, Justyna Zagórska, Paulina Zambrzycka, Silvia Turroni, Hubert Szczerba

Affiliations

  • Department of Biotechnology, Microbiology and Human Nutrition, University of Life Sciences in Lublin, 20-704 Lublin, Poland.
  • Department of Pediatrics, Rheumatology, Immunology and Metabolic Bone Diseases, Medical University of Bialystok, 15-274 Bialystok, Poland.
  • Nutrition Clinic, Department of Clinical Dietetics, Medical University of Lublin, 20-093 Lublin, Poland.
  • Laboratory of Regenerative Medicine, Preclinical Research and Technology Center, Medical University of Warsaw, 02-097 Warsaw, Poland.
  • Department of Food and Nutrition, Medical University of Lublin, 20-093 Lublin, Poland.
  • Metabolic Clinic, Department of Pediatrics, Rheumatology, Immunology and Metabolic Bone Diseases, Ludwig Zamenhoff University Children's Clinical Hospital, Medical University of Bialystok, 15-274 Bialystok, Poland.
  • Unit of Microbiome Science and Biotechnology, Department of Pharmacy and Biotechnology, University of Bologna, 40126 Bologna, Italy.

Abstract

BACKGROUND

Phenylketonuria (PKU) is a metabolic disorder requiring a strict low-phenylalanine diet. Oral health impairment, including bacteriome dysbiosis, is common in PKU, yet the mycobiome remains poorly defined. This pilot study aimed to characterise the salivary oral mycobiome of children with PKU compared with controls and to explore associations with dietary intake.

METHODS

Saliva samples from 18 children, including 8 patients with PKU and 10 age-matched controls, were profiled using internal transcribed spacer (ITS) amplicon sequencing. Alpha/beta diversity, taxonomic composition, diet-fungi correlations, discriminative taxa and LEfSe were analysed.

RESULTS

Alpha diversity did not differ significantly between groups after correction for multiple comparisons, although exploratory subgroup analyses suggested lower evenness in PKU children aged <10 years compared with older controls. Beta diversity differed by diagnosis (PERMANOVA: F = 1.7251, p = 0.0062) and in the age-diagnosis model (F = 1.8502, p = 0.0004). Taxonomic analyses identified nominal differences in several fungal taxa, including Candida (p = 0.011), Saccharomycetales_fam_Incertae_sedis (p = 0.011), Naganishia (p = 0.020), and Aspergillaceae (p = 0.036) in PKU samples; however, these findings should be interpreted as exploratory because many did not remain significant after FDR correction. Diet-mycobiome analyses identified selected FDR-supported associations, including an inverse relationship between phenylalanine intake and Naganishia in PKU.

CONCLUSIONS

This pilot study suggests preliminary compositional differences in the oral mycobiome of children with PKU that may be related to dietary therapy and metabolic context. These exploratory findings require validation in larger cohorts with detailed oral health assessment and control of confounders.

MeSH

Pilot Projects, Pilots, Mycobiome, Phenylalanine, Diet, Food, Diagnosis, Phenylketonurias, Child