Behind the Mystery: ENPP1 Deficiency
March 15, 2021
ENPP1 deficiency is a devastating, life-long disease, making a rapid and correct diagnosis critical.
ENPP1 deficiency is a devastating, life-long disease, making a rapid and correct diagnosis critical. Due to the genetic mutation in either the ENPP1 or ABCC6 genes during fetal development, patients develop general arterial calcification of infancy or GACI. 50 percent of infants will not survive within the first 6 months of life due to calcification and narrowing of their arteries, and worldwide there are only a handful of adult survivors.
Survivors of the infantile phase of ENPP1 deficiency can go on to develop the progressive pediatric phase, autosomal recessive hypophosphatemic rickets type 2. We traveled to Manchester, England to meet Doctor Mughal who specializes in this condition, as well as one family who experienced the impact of this disease.
Bringing the best tips from the experts in Atlanta in business, beauty, wealth management, child healthcare, car shopping, and more. Each year, Atlanta’s Women’s Entrepreneurship Initiative selects 15 local female entrepreneurs for a 15-month business training program. We meet women who have grown their companies, created jobs, and broke through the glass ceiling. With some […]
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