Dental anomalies in a patient with Tyrosinemia type I: first case report in the literature

Hercílio Martelli-Júnior; Hélen Kaline Farias  Bezerra; Anna Luiza Braga Albuquerque; Rodrigo Rezende  Arantes; Marcelo Augusto de Oliveira  Sales; Felipe Paiva Fonseca; Renato Assis  Machado; Ana Cristina Simões e Silva

doi:10.5327/2525-5711.284

Authors

Hercílio Martelli-Júnior State University of Montes Claros, Oral Pathology and Oral Medicine, School of Dentistry – Montes Claros (MG), Brazil. https://orcid.org/0000-0001-9691-2802
Hélen Kaline Farias Bezerra University of Campinas, Piracicaba Dental School, Department of Oral Diagnosis – Piracicaba (SP), Brazil. https://orcid.org/0000-0002-5236-8988
Anna Luiza Braga Albuquerque Federal University of Minas Gerais, Faculty of Medicine, Pediatric Nephrology Unit – Belo Horizonte (MG), Brazil. https://orcid.org/0009-0006-2097-3290
Rodrigo Rezende Arantes Hospital of Clinics, Service of Pediatric Genetics – Belo Horizonte (MG), Brazil. https://orcid.org/0000-0002-5041-1102
Marcelo Augusto de Oliveira Sales Federal University of Paraíba, Department of Clinical and Social Dentistry – João Pessoa (PA), Brazil. https://orcid.org/0000-0002-1575-6594
Felipe Paiva Fonseca Federal University of Minas Gerais, Department of Oral Pathology – Belo Horizonte (MG), Brazil. https://orcid.org/0000-0002-6657-4547
Renato Assis Machado University of Campinas, Piracicaba Dental School, Department of Oral Diagnosis – Piracicaba (SP), Brazil. https://orcid.org/0000-0002-1697-3662
Ana Cristina Simões e Silva Federal University of Minas Gerais, Faculty of Medicine, Pediatric Nephrology Unit – Belo Horizonte (MG), Brazil. https://orcid.org/0000-0001-9222-3882

DOI:

https://doi.org/10.5327/2525-5711.284

Keywords:

Tyrosinemia, Fanconi Syndrome, Hydrolases, Tooth Abnormalities

Abstract

Objective: This clinical report describes a 13-year-old female with a complex medical history and multisystemic symptoms, including lower-extremity deformities, hypercalciuria, low body mass, short stature, abdominal pain, seizures, and hypertension. Case report: Despite an initial clinical diagnosis of nonspecific renal tubular acidosis, further investigation revealed a likely pathogenic homozygous variant in the FAH gene, indicating the diagnosis of tyrosinemia type I (HT1). During the investigation, several dental anomalies were detected in this patient (tooth decay, delayed eruption, hypoplastic enamel, and changes in tooth shape). The patient has been receiving dietary adaptations and electrolyte and alkaline solutions supplementation and is under close medical and dental follow-up care. Practical implications: The aim of this report is to highlight the importance of a thorough investigation and genetic testing in patients with multisystemic symptoms and the possibility of oral manifestations and dental anomalies in association with renal tubular disorders, including Tyrosinemia type I.

References

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Dental anomalies in a patient with Tyrosinemia type I: first case report in the literature

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Volume 10 (2025)

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