ea0041ep120 | Bone & Osteoporosis | ECE2016
Lopez Gallardo Gema
, Roa Llamazares Carlos
Introduction: Hypophosphatasia (HPP) is a rare genetic disease of very variable severity (from letal to mild). HPP results from APL gene mutations, which lead to a deficiency of tissue-nonspecifc alcaline phosphatase (TNAP), and accumulation of inorganic pyrophosphate, a potent inhibitor of mineralization that is also a natural substrate of TNAP in the extracelular space. HPP causes mineralization disorders including soft bones (rickets, osteomalacia, fractures) and defects in...