Abstract
Introduction:
Early tooth loss could be the consequence of local or systemic diseases. We present an odondohypohosphatasia case with autosomal dominant mutation in ALPL gene.
Case:
A three-year-old boy was admitted to our pediatric endocrinology clinic with tooth loss without any other dental or gingival diseases. His serum levels of calcium, phosphorus, alkaline phosphatase, parathormone, and 25-hydroxy vitamin D levels were 9.7 mg/dL, 5.9 mg/dL, 70 U/L, 32.2 pg/mL, and 18.9 ng/mL, respectively. We considered that the patient has odontohypohosphatasia. ALPL gene was analyzed and heterozygous autosomal dominant c.346G>A (p.A116T) mutation was detected. ALPL gene analysis was performed in all members of the family. While his father has no mutation, his mother, brother, and sister have the same heterozygous mutation in the same locus.
Conclusion:
Odontohypophosphatasia should be considered in patients with early tooth loss. It can present without extremely low alkaline phosphatase levels.
Keywords: Hypophosphatasia, odontohypophosphatasia, ALPL gene
