Signs and Symptoms of Hypophosphatasia

By Julio Sotillo, DDS, PhD and Kyriakie Sarafoglou, MD

Hypophosphatasia (HPP) is a rare genetic metabolic disorder characterized by a spectrum of defects caused by mutations of the alkaline phosphatase gene (ALPL). The gene codes for an enzyme called tissue-nonspecific alkaline phosphatase (TNSALP), which is abundant in the skeleton, liver, kidneys, and developing dentitions.^1,2 These mutations, often missense mutations (ie, a single nucleotide change resulting in a different amino acid), result in low TNSALP activity. With such low TNSALP biochemical defects, bone and tooth dysplasia are common clinical findings.³ Reports of HPP prevalence vary; estimates range from one in 2,500 individuals to one in 100,000. Among the United States population, it is most commonly found in Caucasians.³

* References can be found in the original article via the link below.
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