Characteristic dental arches and occlusion in patients with aspartylglucosaminuria

J Craniofac Genet Dev Biol. 1997 Jul-Sep;17(3):133-40.


Aspartylglucosaminuria (AGU) is a lysosomal storage disorder with progressive mental retardation as a presenting manifestation. The disorder is caused by a single nucleotide change in the gene encoding aspartylglucosaminidase (AGA). This rare disease is relatively common in Finland: we were able to examine 81 Finnish AGU-patients for dental and oral changes. Tooth crown size and crown shape were normal, but dental malocclusions were common, and prevalences of spacing, large overjet, anterior open bite, and lateral crossbite exceeded Finnish population prevalences (P < 0.0001). Dental arches were already large in childhood, and in adult patients, when compared to Finnish population standards, the lower dental arch was larger in all dimensions (P < 0.001). Almost all patients had abnormally large tongues, which we assumed to be the reason for the structural abnormalities observed.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Aspartylglucosaminuria
  • Child
  • Child, Preschool
  • Dental Arch / abnormalities
  • Dental Arch / anatomy & histology*
  • Dental Occlusion*
  • Female
  • Humans
  • Lysosomal Storage Diseases / physiopathology*
  • Male
  • Middle Aged
  • Tooth / anatomy & histology