Journal of Inherited Metabolic Disease

, Volume 41, Issue 6, pp 947–953 | Cite as

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

  • Martin Biosse DuplanEmail author
  • Aurélie Hubert
  • Elvire Le Norcy
  • Alice Louzoun
  • Ariane Perry
  • Catherine Chaussain
  • Philippe Labrune
Glycogen Storage Disease


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.


Details of funding

The study was self-funded. The authors confirm independence from the sponsors; the content of the article has not been influenced by the sponsors.

Compliance with ethical standards

A competing interest statement

The co-authors have no competing interest to declare.

Informed consent

Written informed consent (and assent form when the child was less than 18 years) was obtained prior to enrolment in this study.

Documentation of approval from the institutional Committee for Care and use of laboratory animals (or comparable committee)

Not relevant.


  1. Ainamo J, Bay I (1975) Problems and proposals for recording gingivitis and plaque. Int Dent J 25:229–235Google Scholar
  2. Avsar A (2007) dental findings in a child with glycogen storage disease type IA. Quintessence Int Berl Ger 38:e36–e40Google Scholar
  3. Baccetti T, Pierleoni L, Filippi L et al (1994) Dental and craniofacial findings in a child affected by glycogen storage disease type III. J Clin Pediatr Dent 19:55–60Google Scholar
  4. Barrett AP, Buckley DJ, Katelaris CH (1990) Oral complications in type 1B glycogen storage disease. Oral Surg Oral Med Oral Pathol 69:174–176CrossRefGoogle Scholar
  5. Bartoli A, Bossu M, Sfasciotti G, Polimeni A (2006) Glycogen storage disease type Ib: a paediatric case report. Eur J Paediatr Dent 7:192–198Google Scholar
  6. Bernabé E, Vehkalahti MM, Sheiham A et al (2016) The shape of the dose-response relationship between sugars and caries in adults. J Dent Res 95:167–172CrossRefGoogle Scholar
  7. Bolaños MV, Moussa H, Manrique MC, Bolaños MJ (2003) Radiographic evaluation of third molar development in Spanish children and young people. Forensic Sci Int 133:212–219. CrossRefGoogle Scholar
  8. Bratthall D (2005) Estimation of global DMFT for 12-year-olds in 2004. Int Dent J 55:370–372CrossRefGoogle Scholar
  9. Burt BA, Pai S (2001) Sugar consumption and caries risk: a systematic review. J Dent Educ 65:1017–1023Google Scholar
  10. Chaussain-Miller C, Sinding C, Wolikow M et al (2003) Dental abnormalities in patients with familial hypophosphatemic vitamin D-resistant rickets: prevention by early treatment with 1-hydroxyvitamin D. J Pediatr 142:324–331. CrossRefGoogle Scholar
  11. Chou JY, Jun HS, Mansfield BC (2010) Glycogen storage disease type I and G6Pase-beta deficiency: etiology and therapy. Nat Rev Endocrinol 6:676–688. CrossRefGoogle Scholar
  12. Cudzinowski L (1979) Von Gierke’s disease: report of case. ASDC J Dent Child 46:413–415Google Scholar
  13. Deas DE, Mackey SA, McDonnell HT (2003) systemic disease and periodontitis: manifestations of neutrophil dysfunction. Periodontol 32:82–104CrossRefGoogle Scholar
  14. Demirjian A, Goldstein H, Tanner J (1973) A new system of dental age assessment. Hum Biol 45:211–227Google Scholar
  15. Dougherty N, Gataletto MA (1995) Oral sequelae of chronic neutrophil defects: case report of a child with glycogen storage disease type 1b. Pediatr Dent 17:224–229Google Scholar
  16. Eke PI, Page RC, Wei L et al (2012) Update of the case definitions for population-based surveillance of periodontitis. J Periodontol 83:1449–1454. CrossRefGoogle Scholar
  17. Farrington FH, Duncan LL, Roth KS (1995) Looking a gift horse in the mouth: effects of cornstarch therapy and other implications of glycogen storage disease on oral hygiene and dentition. Pediatr Dent 17:311–311Google Scholar
  18. Froissart R, Piraud M, Boudjemline AM et al (2011) Glucose-6-phosphatase deficiency. Orphanet J Rare Dis 6:27CrossRefGoogle Scholar
  19. Haritha A, Jayakumar A (2011) syndromes as they relate to periodontal disease. Periodontol 56:65–86CrossRefGoogle Scholar
  20. Hornecker E (2005) Periodontal and mucosal findings in glycogen-storage disease type Ib: a 12-year case report. Periodontal Pract Today 2:39–48Google Scholar
  21. Katz J, Shenkman Z, Sela M et al (1997) Oral manifestations and anesthesia considerations in a child with glycogen storage disease type 1b: case report. Pediatr Dent 19:123–126Google Scholar
  22. Khocht A, Albandar JM (2014) Aggressive forms of periodontitis secondary to systemic disorders. Periodontol 2000 65:134–148. CrossRefGoogle Scholar
  23. Kidd SA, Rademeyer C, Roberts GJ et al (2002) Dental disease indices and caries-related microflora in children with glycogen storage disease. Int J Paediatr Dent 12:8–13Google Scholar
  24. Klein H, Palmer CE, Knutson JW (1938) Studies on dental caries: I. Dental status and dental needs of elementary school children. Public Health Rep 1896-1970:751–765CrossRefGoogle Scholar
  25. Klein OD, Oberoi S, Huysseune A et al (2013) Developmental disorders of the dentition: an update.. Am J Med Genet C Semin Med Genet 163:318–332.
  26. Koven NL, Clark MM, Cody CS et al (1986) Impaired chemotaxis and neutrophil (polymorphonuclear leukocyte) function in glycogenosis type IB. Pediatr Res 20:438CrossRefGoogle Scholar
  27. Lingstrom P, van Houte J, Kashket S (2000) Food starches and dental caries. Crit Rev Oral Biol Med Off Publ Am Assoc Oral Biol 11:366–380CrossRefGoogle Scholar
  28. Loevy HT, Matalon R, Rosenthal IM (1983) Delayed dental age in hepatorenal glycogen storage disease. J Am Dent Assoc 1939 107:944–946CrossRefGoogle Scholar
  29. Maber M, Liversidge HM, Hector MP (2006) Accuracy of age estimation of radiographic methods using developing teeth. Forensic Sci Int 159:S68–S73. CrossRefGoogle Scholar
  30. Matern D, Seydewitz HH, Bali D et al (2002) Glycogen storage disease type I: diagnosis and phenotype/genotype correlation. Eur J Pediatr 161(Suppl 1):S10–S19. CrossRefGoogle Scholar
  31. Mobley CC (2003) Nutrition and dental caries. Dent Clin N Am 47:319–336. CrossRefGoogle Scholar
  32. Mortellaro C, Garagiola U, Carbone V et al (2005) Unusual oral manifestations and evolution in glycogen storage disease type Ib. J Craniofac Surg 16:45–52CrossRefGoogle Scholar
  33. Nolla CM (1960) The development of permanent teeth. J Dent Child 27:254–266Google Scholar
  34. O’Leary TJ, Drake RB, Naylor JE (1972) The plaque control record. J Periodontol 43:38. CrossRefGoogle Scholar
  35. Polder BJ, Van’t Hof MA, Van der Linden FP, Kuijpers-Jagtman AM (2004) A meta-analysis of the prevalence of dental agenesis of permanent teeth. Community Dent Oral Epidemiol 32:217–226CrossRefGoogle Scholar
  36. Ralls SA, Marshall EC (1985) dental management of a patient with glycogen storage disease type I. J Am Dent Assoc 110:723–726CrossRefGoogle Scholar
  37. Shifman A, Chanannel I (1978) Prevalence of taurodontism found in radiographic dental examination of 1,200 young adult Israeli patients. Community Dent Oral Epidemiol 6:200–203CrossRefGoogle Scholar
  38. Suri L, Gagari E, Vastardis H (2004) Delayed tooth eruption: pathogenesis, diagnosis, and treatment. A literature review. Am J Orthod Dentofac Orthop 126:432–445. CrossRefGoogle Scholar
  39. van der Velden U (2005) Purpose and problems of periodontal disease classification. Periodontol 2000(39):13–21. CrossRefGoogle Scholar
  40. Vastardis H (2000) The genetics of human tooth agenesis: new discoveries for understanding dental anomalies. Am J Orthod Dentofac Orthop 117:0650–0656. CrossRefGoogle Scholar
  41. Walter J, Labrune PA, Laforet P (2016) The glycogen storage diseases and related disorders. In: Inborn metabolic diseases. Springer, Berlin, pp 121–137Google Scholar

Copyright information

© SSIEM 2018

Authors and Affiliations

  1. 1.Service de Médecine Bucco-DentaireHôpital Bretonneau, HUPNVS, AP-HPParisFrance
  2. 2.UFR OdontologieUniversité Paris DescartesParisFrance
  3. 3.Centre de Référence des Maladies Héréditaires du Métabolisme HépatiqueHôpital Antoine Béclère, HUPS, AP-HPClamartFrance
  4. 4.Service de PédiatrieHôpital Antoine Béclère, HUPS, AP-HPClamartFrance
  5. 5.Université Paris SudOrsayFrance

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