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.
Mixing it up in sweet and savory ways: We’re featuring the world-famous, award-winning Angostura® aromatic bitters, orange bitters, and the newly introduced cocoa bitters.
Multiple sclerosis (MS) is an autoimmune condition where the immune system inappropriately attacks the brain and the spinal cord.
What women "auto" know about car insurance, plus living with and managing multiple sclerosis, and mixing it up with Angostura coca bitters.