Catherine Nester, BSN, Vice President of Physician and Patient Strategies at Inozyme Pharma, explains the prevalence of Ectonucleotide pyrophosphatase/phosphodiesterase 1Ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1) Deficiency.
ENPP1 Deficiency is a rare metabolic disorder. ENPP1 is an enzyme involved in the cleavage of ectonucleotides. A plethora of metabolic concerns can arise from a deficiency in this enzyme. Babies typically present with generalized arterial calcification of infancy in utero or in infancy and within six months of birth about half of the infants with ENPP1 Deficiency die. Children who survive typically experience rickets and other manifestations. Adults may experience osteomalacia, hearing loss, arterial calcification, and cardiac and/or neurological involvement. There are no approved therapies for this deficiency.
For more information about this disorder and other metabolic disorders, visit checkrare.com/diseases/metabolic-disorders/
