Oral Manifestations in Patients with Glycogen Storage Disease: A Systematic Review of the Literature
Source abstract
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.
Source: crossref · Quality: baseline
Research context
OpenAlex topics: Glycogen Storage Diseases and Myoclonus · Oral and gingival health research · Genetics and Neurodevelopmental Disorders
SciVX discovery tags are terminology-based. OpenAlex topics are source-provided classifications.
Affiliations
Multidisciplinary Department of Medical-Surgical and Dental Specialties, University of Campania “L. Vanvitelli”, Via Luigi De Crecchio 6, 80138 Naples, Italy
Department of Medicine and Surgery, Centre of Neuroscience of Milan, University of Milano-Bicocca, 20126 Milan, Italy
Interdisciplinary Department of Medicine, University of Bari “A. Moro”, 70124 Bari, Italy
References (49)
Show source-provided references
1. The metabolic syndrome and chronic kidney disease10.1016/j.trsl.2016.12.004 ↗
2. Molecular diagnosis of glycogen storage disease and disorders with overlapping clinical symptoms by massive parallel sequencing10.1038/gim.2015.217 ↗
3. Saudubray, J.-M., Baumgartner, M.R., and Walter, J. (2016). Inborn Metabolic Diseases, Springer.10.1007/978-3-662-49771-5 ↗
4. Looking a gift horse in the mouth: Effects of cornstarch therapy and other implications of glycogen storage disease on oral hygiene and dentition
5. Correlation between quantitative whole-body muscle magnetic resonance imaging and clinical muscle weakness in pompe disease10.1002/mus.24437 ↗
6. Unusual Oral Manifestations and Evolution in Glycogen Storage Disease Type Ib10.1097/00001665-200501000-00010 ↗
7. Risk of bias in nonrandomized studies of interventions showed low inter-rater reliability and challenges in its application10.1016/j.jclinepi.2019.04.001 ↗
8. Dental findings in a child with glycogen storage disease type IA
9. Glycogen storage disease and von Willebrand’s disease implications for dental treatment: Dental management of a pediatric patient10.1111/j.1754-4505.1998.tb01641.x ↗
10. Dental and periodontal manifestations of glycogen storage diseases: A case series of 60 patients10.1007/s10545-018-0182-3 ↗
11. A Third Case of Glycogen Storage Disease IB and Giant Cell Tumour of the Mandible: A Disease Association or Iatrogenic Complication of Therapy10.1007/8904_2017_67 ↗
12. Oral Giant Cell Granuloma in a Patient with Glycogen Storage Disease10.2174/1874210600903010144 ↗
13. Association of glycogen storage disease 1b and Crohn disease: Results of a North American survey10.1007/BF02680002 ↗
14. Oropharyngeal dysphagia in infants and children with infantile Pompe disease10.1007/s00455-009-9252-x ↗
15. Nutritional deficiencies in a patient with glycogen storage disease type Ib10.1023/A:1005549823146 ↗
16. Glycogen storage disease type Ib: Infectious complications and measures for prevention10.1007/BF02072088 ↗
17. A patient with glycogen storage disease type Ib presenting with acute myeloid leukemia (AML) bearing monosomy 7 and granulocyte colony-stimulating factor (G-CSF): A case report
18. The benefits of liver transplantation in glycogenosis type Ib10.1023/B:BOLI.0000037400.49488.20 ↗
19. Glycogen storage disease IB and severe periodontal destruction: A case report10.3390/dj6040053 ↗
20. Oral manifestations in glycogen storage disease type 1b10.1111/j.1600-0714.1995.tb01154.x ↗
21. Oral complications in type 1B glycogen storage disease10.1016/0030-4220(90)90323-K ↗
22. Oral sequelae of chronic neutrophil defects: Case report of a child with glycogen storage disease type 1b
23. Glycogen Storage Disease type Ib: A paediatric case report
24. Oral manifestations and anesthesia considerations in a child with glycogen storage disease type 1b: Case report
25. Pregnancy in glycogen storage disease type Ib: Gestational care and report of first successful deliveries10.1007/s10545-010-9054-1 ↗
26. Quantitative assessment of lingual strength in late-onset Pompe disease10.1002/mus.24523 ↗
27. Obstructive Sleep Apnea Syndrome in Acid Maltase Deficiency10.1378/chest.105.3.947 ↗
28. Increased occurrence of cleft lip in glycogen storage disease type II (GSDII): Exclusion of a contiguous gene syndrome in two patients by presence of intragenic mutations (Am J Med Genet 85: 5-8(1999))10.1002/ajmg.a.30830 ↗
29. Muscle MRI of classic infantile pompe patients: Fatty substitution and edema-like changes10.1002/mus.25417 ↗
30. Familial adult-onset Pompe disease associated with unusual clinical and histological features
31. Bulbar muscle weakness and fatty lingual in fi ltration in glycogen storage disorder type IIIa10.1016/j.ymgme.2012.09.025 ↗
32. Improvement of dysphagia in a child affected by Pompe disease treated with enzyme replacement therapy10.1186/1824-7288-39-30 ↗
33. Expanding the phenotype of late-onset pompe disease: Tongue weakness: A new clinical observation10.1002/mus.22202 ↗
34. Analysis of voice quality in patients with late-onset Pompe disease10.1186/s13023-016-0480-5 ↗
35. Abnormal tongue features as a clinical clue for late-onset Pompe’s disease10.1590/0004-282x20170130 ↗
36. Clinical variability in adult-onset acid maltase deficiency: Report of affected sibs and review of the literature10.1097/00005792-199505000-00002 ↗
37. Not only bright tongue sign in Pompe disease10.1212/WNL.0000000000003211 ↗
38. Oropharyngeal dysphagia may occur in late-onset Pompe disease, implicating bulbar muscle involvement10.1016/j.nmd.2012.12.003 ↗
39. Gingival Overgrowth in Pompe Disease: A Case Report10.1016/j.joms.2011.03.070 ↗
40. Dental and craniofacial findings in a child affected by glycogen storage disease type III
41. Facial appearance in glycogen storage disease type III10.1097/00019605-200204000-00008 ↗
42. Masticatory muscle symptoms in a patient with McArdle’s disease10.1016/S1079-2104(96)80043-6 ↗
43. Mastication and Oral Motor Function in McArdle Disease: Patient Reported Complaints10.3233/JND-180320 ↗
44. Defining the Phenotype and Assessing Severity in Phosphoglucomutase-1 Deficiency10.1016/j.jpeds.2016.04.021 ↗
45. Phosphoglucomutase-1 deficiency: Intrafamilial clinical variability and common secondary adrenal insufficiency10.1002/ajmg.a.37294 ↗
46. Department. Glycogen storage disease-like phenotype with central nervous system involvement in a PGM1-CDG patient Nina
47. Dental disease indices and caries-related microflora in children with glycogen storage disease
48. Diagnosis and management of glycogen storage disease type I: A practice guideline of the American College of Medical Genetics and Genomics10.1038/gim.2014.128 ↗
49. Feeding Difficulties and Orofacial Myofunctional Disorder in Patients with Hepatic Glycogen Storage Diseases10.1007/8904_2018_131 ↗