Oral supplementation of inorganic pyrophosphate in pseudoxanthoma elasticum.

ABSTRACT: Pseudoxanthoma elasticum (PXE; OMIM 264800) is a rare heritable multisystem disorder, characterized by ectopic mineralization affecting elastic fibres in the skin, eyes and the cardiovascular system. Skin findings often lead to early diagnosis of PXE, but currently, no specific treatment exists to counteract the progression of symptoms. PXE belongs to a group of Mendelian calcification disorders linked to pyrophosphate metabolism, which also includes generalized arterial calcification of infancy (GACI) and arterial calcification due to CD73 deficiency (ACDC). Inactivating mutations in ABCC6, ENPP1 and NT5E are the genetic cause of these diseases, respectively, and all of them result in reduced inorganic pyrophosphate (PP_i ) concentration in the circulation. Although PP_i

SUBMITTER: Kozak E 

PROVIDER: S-EPMC8977233 | biostudies-literature | 2022 Apr

REPOSITORIES: biostudies-literature