JAYPEE JOURNALS
International Scientific Journals from Jaypee
Subscriber's Login
Home Instructions Editorial Board Current Issue Pubmed Archives Subscription Contact Us
Journal of Contemporary Dentistry
Abstract
 
 

ABSTRACT
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.
Source of support: Nil
Conflict of interest: None

 
 

© Jaypee Brothers Medical Publishers (P) Ltd.