Mark Kiel, MD, PhD, chief science officer at Genomenon and Catherine Nester, BSN, VP of Physician and Patient Strategies at Inozyme Pharma, discuss the prevalence of Ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1) Deficiency.
ENPP1 is an enzyme involved in the cleavage of ectonucleotides. When a person is deficient in this enzyme, it can lead to a plethora of metabolic concerns. Babies who present in utero or in infancy are typically diagnosed with generalized arterial calcification of infancy. Approximately half of infants with ENPP1 Deficiency die within six months of birth. Children with ENPP1 Deficiency typically experience rickets, while adults experience osteomalacia, hearing loss, arterial calcification, and cardiac and/or neurological involvement. There are no approved therapies for ENPP1 Deficiency.
Since the data on ENPP1 Deficiency is limited, the prevalence of this rare disease has been unclear. Recently, a study published in the Orphanet Journal of Rare Diseases estimated the prevalence to be 1 in 64,000.
As noted by Dr Kiel, the estimated prevalence was calculated using genetics guidelines to interpret the latest data on disease-causing ENPP1 variants and to calculate carrier frequency with the Genome Aggregation Database (gnomAD).
For more information about ENPP1 Deficiency and other metabolic disorders, visit checkrare.com/diseases/metabolic-disorders/