The present invention uncovers that mutations in GALNT3 gene encoding
UDP-N-acetyl-alpha-D-galactosamine:polypeptide
N-acetylgalactosaminyltransferase (GalNAc-T3) cause familial tumoral
calcinosis (FTC). Methods and pharmaceutical compositions useful for
treating disorders associated with abnormal phosphate metabolism are
provided. Specifically, inducers of GalNAc-T3 can be used to treat
hyperphosphatemia related disorders such as FTC, and on the other hand,
inhibitors of GalNAc-T3 can be used to treat disorders associated with
hypophosphatemia, such as hypophosphatemic rickets.