ba0003pp380 | Other diseases of bone and mineral metabolism | ECTS2014
Graser Stephanie
, Mentrup Birgit
, Hofmann Christine
, Schneider Doris
, Jakob Franz
Hypophosphatasia (HPP) is a rare disease characterized by low enzymatic activity of tissue-nonspecific alkaline phosphatase (TNSALP) resulting in an accumulation of its endogenous substrates like pyridoxal phosphate (PLP) and inorganic pyrophosphate (PPi). The ectoenzyme plays an important role during bone mineralization and might contribute to proper function of kidney and muscle. Neurological symptoms of HPP like seizures, anxiety disorders and depression provide ...