Hypophosphatasia (HP) is an inherited disorder characterized by defective bone and teeth mineralization and deficiency of serum and bone alkaline phosphatase (AP) activity. For severe forms, disease frequency has been estimated at 1/100,000. Symptoms of the disease are highly variable in their clinical expression ranging from stillbirth with unmineralized bone to early loss of tooth without any bone symptoms. The transmission of severe form is autosomal recessive while milder forms get transmitted as dominant or recessive autosomal traits. The diagnosis can be done by performing serum AP assay and molecular analysis of the tissue-nonspecific alkaline phosphatase (TNSALP) gene.
Keywords: Alkaline phosphate, Disorder, Recessive.
How to cite this article: Jhingala VK, Tangade P, Punia H, Gupta V, Singh V, Kalra M, Chaudhary S. Hypophosphatasia: Rare but there. J Contemp Dent 2016;6(3):184-188.
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