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

Antonio Romano,Dario Di Stasio,Alberta Lucchese,Rosario Serpico,Dorina Lauritano,Maria Contaldo,Fedora Della Vella,Diana Russo

doi:10.3390/app10196720

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.

Highlights

Glycogen storage disease (GSD) is a group of rare metabolic diseases, whose overall incidence in the population is estimated at 1 in 2000–43,000
Can present a varied number of oral manifestations. It is of great importance for the oral medicine specialist to know and classify them
A total of 757 articles were identified in the initial search

Summary

Introduction

Glycogen storage disease (GSD) is a group of rare metabolic diseases, whose overall incidence in the population is estimated at 1 in 2000–43,000. These pathologies are caused by functional deficiency or lack of one of the enzymes that contribute to glycogen metabolism. Twenty-three types of GSDs are currently recognized, they are classified depending on the organ affected and the enzyme deficiency involved: GSD types 0, I, III, IV, VI, IX, and XI affect the liver; types II, IIIa, V, VII, IXd, X, XII, XIII, and XIV affect the muscles, and type IIA, IIb, and PRKAG2 deficiency cause myopathy/cardiomyopathy [2]. Some GSDs, types III and IXb, can affect both the liver and muscles [3]. It is possible to divide GSDs into two macro-groups, according to the affected organ and to

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