Dental and periodontal manifestations of glycogen storage diseases: a case series of 60 patients

Abstract

Glycogen storage diseases (GSDs) are rare genetic disorders of glycogen metabolism where the liver, kidneys, respiratory and cardiac muscles, as well as the immune and skeletal systems can be affected. Oral manifestations can also be present, but the specificity and frequency of these manifestations in the different forms of GSD are unknown. Analysis of a case series of 60 patients presenting four types of GSD (Ia, Ib, III, and IX) showed that the different types of GSDs have common and specific oral manifestations. In none of the GSD types studied, the prevalence of caries was higher than in the general population, especially in patients benefiting from current nutritional therapy, while in all GSD types the prevalence of delayed tooth eruption, agenesis, and tooth shape abnormalities was increased compared to the general population. Severe periodontitis prevalence was increased in patients with GSD Ib and neutropenia. Our results show that GSDs have oral manifestations and suggest some specificity depending on the type of GSDs.

Periodontal Manifestation of Type Ib Glycogen Storage Disease: A Rare Case Report

“…11 Others studies however found no difference in caries susceptibility between GSD patients compared to the general population. 12 Garcia et al found that caries susceptibility in GSD patients was more in orally fed patients than in gastronomy-tube fed patients due to the acidic environment created by their cornstarch diet. 13 The appearance of dark spots and hypomineralization on the enamel of deciduous teeth represents enamel-related susceptibility to dental caries was also reported by Bartoli et al 14 Although several authors reported delayed eruption in patients with different types of GSD including Type Ib, [11][12][13] this finding was not evident in the present case.…”

Inborn errors of metabolism and their impact in paediatric dentistry

“…DTE is the most encountered deviation from normal eruption. 68 Gaucher disease, glycogen storage disorder types 1a and 1b, I-cell disease (mucolipidosis II), mucopolysaccharidoses (predominantly Hurler Scheie, Hunter and Maroteaux Lamy syndrome) 25,69 portray systemic conditions with a predilection for DTE. Moreover, local factors such as cleft lip and palate, bony pathology, and supernumerary teeth that occur as part of certain IEM have a possibility to cause a localised DTE.…”

“…Masticatory muscle symptoms such as myalgia, myofascial pain and challenges in mastication are therefore commonly reported in GSD V. 4 1.1.6 | Glycogen storage disorder Ib (GSD Ib) Glycogen storage disorder Ib (GSD Ib) is of explicit importance to paediatric dentists and is attributable to mutations in the SLC37A4 gene, encoding glucose-6-phosphate translocase. 34 Phenotypically, patients are susceptible to neutropenia and neutrophil dysfunction 25 which can clinically manifest as neutropenic ulcers, severe gingivitis or periodontal disease in addition to bleeding diatheses caused by thrombocytopaenia. 4 Where frequent nutritional intervention is essential to maintain normoglycaemia in GSD patients, painful oral ulceration may impede a patient's compliance with the regime.…”

Stem Cell Therapy in Chronic Periodontitis: Host Limitations and Strategies

“…Particularly, as oral bacteria and their components can enter the circulation through the ulcers within the periodontal pockets, periodontitis affects the occurrence and development of many systemic diseases, such as cardiovascular disease and diabetes (4,5). Reciprocally, the morbidity and progression of periodontal inflammation are also affected by systemic conditions (6,7). Therefore, chronic periodontitis is an important disease that is related to the whole body rather than localized infection.…”