title: Gingival biopsy in diagnosis of inborn storage diseases: a case of aspartylglycosaminuria.
abstract: The case described is that of a 9-yr-old girl presenting with aspartylglycosaminuria. Diagnosis of this lysosomal storage disease was guided by histologic study of gingival specimen sampled in the course of dental care. Transmitted electron microscopy (TEM) revealed many vesicles and cellular inclusions, altered collagenic formations, associated with abnormal extracellular matrix. Gingival biopsy is easily performed, is noniatrogenic, leaves nor scar, and could be properly used to help diagnose metabolic diseases in children.
authors.affiliation: Oral Biology Laboratory, Hospital Sud, Rennes, France.
authors.forename: M
authors.initials: M
authors.lastname: Bonnaure-Mallet
authors.forename: M N
authors.initials: MN
authors.lastname: Loiseau-Corvez
authors.forename: J
authors.initials: J
authors.lastname: Goasguen
authors.forename: J
authors.initials: J
authors.lastname: Apiou
authors.forename: C
authors.initials: C
authors.lastname: Jezequel
mesh_terms: D000117:Acetylglucosamine / Q000031:analogs & derivatives* / Q000652:urine; D000118:Acetylglucosaminidase / Q000172:deficiency*; D001706:Biopsy; D002648:Child; D005260:Female; D005881:Gingiva / Q000648:ultrastructure*; D006801:Humans; D008247:Lysosomes; D008260:Macroglossia; D009081:Mucolipidoses / Q000175:diagnosis* / Q000652:urine; D014071:Tooth Abnormalities / Q000175:diagnosis*; D014078:Tooth Eruption
chemical_list: C000009:N-acetylglucosaminylasparagine; D000118:Acetylglucosaminidase; D000117:Acetylglucosamine