Hypophosphatasia: enzyme replacement therapy (asfotase alfa) decreases TNSALP substrate accumulation and improves functional outcomes in affected …

MP Whyte, PS Kishnani, CR Greenberg… - Bulletin du …, 2012 - revistes.ub.edu
Hypophosphatasia (HPP), an inherited metabolic disease, results from a generalized
deficiency of the activity of tissue non-specific alkaline phosphatase (TNSALP). Substrates of
TNSALP, including inorganic pyrophosphate (PPi) and pyridoxal 5'-phosphate (PLP),
accumulate in HPP and contribute to the pathophysiology which includes impaired skeletal
mineralization and other multi-systemic problems including vitamin B6-dependent seizures,
nephrocalcinosis, myopathy and pain. There is no approved therapy; asfotase alfa (ENB …