Hypophosphatasia

PubMed, the Internet portal of biomedical and life sciences literature, indexed an interesting article, entitled Hypophosphatasia (Orphanet Journal of Rare Diseases 2007, 2:40). Author is Etienne Mornet. Hypophosphatasia is a rare inherited disorder characterized by defective bone and teeth mineralization and deficiency of serum and bone alkaline phosphatase activity.The symptoms are highly variable – from stillbirth without mineralized bone to early loss of teeth without bone symptoms. There are six clinical forms – perinatal (lethal), perinatal benign, infantile, childhood, adult and odontohypophosphatasia. The disease is due to mutations in the liver/bone/kidney alkaline phosphatase gene (ALPL; OMIM# 171760) encoding the tissue-nonspecific alkaline phosphatase (TNAP). There is no curative treatment for hypophosphatasia. Enzyme replacement therapy will be certainly the challenge of the next years. To access the full abstract of the article, click here.