Hypophosphatasia (HPP) is due to mutations in ALPL gene which encodes the tissue non-specific alkaline phosphatase isozyme (TNSALP). Defective/inactive TNSALP causes an increased concentration of inorganic pyrophosphate (PPi) in bone matrix that impairs bone mineralization.
No takes yet. Share an insight, caveat, or question.
Maria Teresa Valenti (2016) studied this question.
Synapse has enriched 5 related papers. Consider them for comparative context: