title: Oral findings associated with primary hyperoxaluria type I.
abstract: In the present paper we report the oral findings of a patient who was diagnosed with hyperoxaluria. Hyperoxalurias can basically be classified as primary and secondary, with the first being inborn errors of metabolism and the second a result of excessive oxalate intake. Primary hyperoxalurias form a rare group of metabolic diseases that are inherited in the autosomal recessive fashion. The affected genes code for specific hepatic enzymes that are involved in glyoxylate metabolism and their deficiency results in overproduction of oxalate. Two different types are described: Primary hyperoxaluria type I results from a deficiency of peroxisomal enzyme alanine-glyoxylate aminotransferase and the more rare type II from a deficiency of cytosolic enzyme D-glycerate dehydrogenase. Since oxalate is primarily excreted through the kidneys, abnormally high concentration of oxalate in the urine occurs. This can in turn result in recurrent kidney stones and parenchymal renal damage and end-stage renal disease (ESRD). Inability to further excrete oxalate through the kidneys leads to its deposition in various organs (oxalosis). Several oral findings have been described in patients with oxalosis, most important of whose are bone resorption in the jaws, external root resorption and rapidly progressive dental mobility, as well as dental pain associated with deposition of oxalate in the dentine and the pulp.
authors.affiliation: Department of Oral and Maxillofacial Surgery, University of Erlangen-Nürnberg, Glückstrasse 11, 91054 Erlangen, Germany. Konstantinos.Mitsimponas@uk-erlangen.de
authors.forename: K T
authors.initials: KT
authors.lastname: Mitsimponas
authors.forename: T
authors.initials: T
authors.lastname: Wehrhan
authors.forename: S
authors.initials: S
authors.lastname: Falk
authors.forename: F
authors.initials: F
authors.lastname: Wehrhan
authors.forename: F W
authors.initials: FW
authors.lastname: Neukam
authors.forename: K A
authors.initials: KA
authors.lastname: Schlegel
mesh_terms: D016301:Alveolar Bone Loss / Q000209:etiology; D055113:Chronic Periodontitis / Q000209:etiology; D005891:Gingivitis / Q000209:etiology; D006801:Humans; D006960:Hyperoxaluria, Primary / Q000150:complications*; D007180:Incisor / Q000473:pathology; D008963:Molar / Q000473:pathology; D010014:Osteolysis / Q000209:etiology; D010510:Periodontal Diseases / Q000209:etiology*; D012391:Root Resorption / Q000209:etiology; D019227:Tooth Apex / Q000473:pathology; D014076:Tooth Diseases / Q000209:etiology*; D016388:Tooth Loss / Q000209:etiology; D014086:Tooth Mobility / Q000209:etiology