Hypophosphatasia: A Rare Disorder

摘要

Hypophosphatasia is a rare auto-somal dominant or recessive metabolic disorder caused by mutations in the alkaline phos-phatase (ALPL) gene. It was first detected by Rathbun in 1948 and is caused by mutations in the liver/ bone/kidney alkaline phosphatase gene—encoding tissue nonspecific alkaline phosphatase (TNSALP). To date, over 200 different mutations in ALPL have been identified. The inherited disorder results in defective mineralization of bones and/or teeth in the presence of low serum and bone alkaline phosphatase activity. The disease severity varies widely, with severe forms usually manifesting during the perinatal and/or infantile periods; mild forms are sometimes diagnosed in adulthood or remain undiagnosed.