Neurological Symptoms of Hypophosphatasia.

  title={Neurological Symptoms of Hypophosphatasia.},
  author={Takeshi Taketani},
  journal={Sub-cellular biochemistry},
Hypophosphatasia (HPP) is a bone metabolic disorder caused by mutations in the liver/bone/kidney alkaline phosphatase gene (ALPL), which encodes tissue-nonspecific alkaline phosphatase (TNAP). This disease is characterized by disrupted bone and tooth mineralization, and reduced serum AP activity. Along with bone and tooth symptoms, many neurological symptoms, seizure, encephalopathy, intracranial hypertension, mental retardation, deafness, and growth hormone deficiency (GHD), are frequently… CONTINUE READING