Oral Manifestations in Patients with Glycogen Storage Disease: A Systematic Review of the Literature

Abstract

(1) Background: Glycogen storage disease (GSD) represents a group of twenty-three types of metabolic disorders which damage the capacity of body to store glucose classified basing on the enzyme deficiency involved. Affected patients could present some oro-facial alterations: the purpose of this review is to catalog and characterize oral manifestations in these patients. (2) Methods: a systematic review of the literature among different search engines using PICOS criteria has been performed. The studies were included with the following criteria: tissues and anatomical structures of the oral cavity in humans, published in English, and available full text. Review articles and paper published before 1990 were excluded. (3) Results: 757 articles were identified in the initial search. In the end, 45 articles that met the selection criteria has been analyzed. The information extracted from the articles was classified according to the type of GSD (Ia; Ib; II; III; V; XIV). Oral manifestations range from dental caries to severe periodontitis in paediatric patients, from diffuses and recurrent oral ulcers in the cleft lip and palate. (4) Conclusions: Although considered a rare disease, GSD can present a varied number of oral manifestations. Therefore, it is of great importance for the oral medicine specialist to know and classify them.

Inborn errors of metabolism and their impact in paediatric dentistry

“…Taurodontism describes a dental anomaly which results in enlargement of the pulp chamber vertically at the T A B L E 1 Dental features commonly found in constituent inherited metabolic disease. 4,5,7,17,25,43,51,52,58,62,66,69,[76][77][78][79][80][81][82] expense of the roots and can be seen in glycogen storage disorders (GSD), various mucopolysaccharidosis and multiple sulfatase deficiency. A cross sectional study of 14 MPS patients (mixed diagnoses) showed taurodontism in 57%, 22 whereas taurodontism in GSD is limited to single case reports and case series.…”

“…4,33 Comparatively, GSD V, caused by defects in the PYGM gene (glycogen phosphorylase, muscle associated) results in an inability of myophosphorylase to break down glycogen in muscle cells leading to fatigue, myalgia, and cramps during exertion. 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.…”

New Trends in Biosciences

“…Because glycogen storage disease (GSD) represents a group of twenty-three types of metabolic disorders which damage the capacity of the body to store glucose classified based on the enzyme deficiency involved and affected patients could present some oro-facial alterations, Romano et al conducted a systematic review of the literature among different search engines using PICOS criteria, to catalog and characterize oral manifestations in these patients [18].…”

DBS Screening for Glycogen Storage Disease Type 1a: Detection of c.648G>T Mutation in G6PC by Combination of Modified Competitive Oligonucleotide Priming-PCR and Melting Curve Analysis

“…Furthermore, the illness may result in hepatomegaly, growth retardation, bleeding tendency due to impaired platelet aggregation, and frequent bone fractures due to osteopenia [ 13 ]. The growth retardation could explain the eruption delay of the dental elements [ 14 ]. Serious long-term complications are hepatocellular adenoma [ 15 , 16 ] and renal diseases such as focal segmental glomerulosclerosis [ 17 ].…”

“…Dietary therapies to prevent fasting hypoglycemia are currently available, but cannot prevent the long-term complications of hepatic tumors [ 18 ]. In addition, the frequent intake of carbohydrates in dietary therapies provides a substrate for oral cariogenic bacteria by implementing the risk of developing caries [ 14 ].…”