Hypophosphatasia.
Hypophosphatasia is a rare inherited disorder characterized by defective bone and tooth mineralization, and deficiency of serum and bone alkaline phosphatase activity. The frequency of the disease has been estimated to be one in 100 000 for severe forms, but mild forms of hypophosphatasia may be more common. The symptoms are highly variable in their clinical expression, which ranges from stillbirth without mineralized bone to early tooth loss without bone symptoms. The transmission of severe forms is autosomal recessive, while milder forms may be transmitted as dominant or recessive autosomal traits. The diagnosis is based on serum alkaline phosphatase assay and molecular analysis of the liver/bone/kidney alkaline phosphatase gene (ALPL). Currently, there is no treatment for the disease. Over the past 10 years, great progress has been made in understanding the structure of tissue non-specific alkaline phosphatase, its function in bone mineralization, and the effect of ALPL mutations responsible for hypophosphatasia.
Mornet
Etienne
E
Laboratoire SESEP, Centre Hospitalier de Versailles, Bâtiment EFS, 2 rue Jean-Louis Forain, 78150 Le Chesnay, France. etienne.mornet@cytogene.uvsq.fr
D000469:Alkaline Phosphatase / Q000235:genetics; D002352:Carrier Proteins / Q000235:genetics; D005817:Genetic Counseling; D006801:Humans; D007014:Hypophosphatasia / Q000235:genetics* / Q000628:therapy; D008961:Models, Structural; D020125:Mutation, Missense / Q000235:genetics
D002352:Carrier Proteins; C548267:ALPL protein, human; D000469:Alkaline Phosphatase