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.
Hearing loss is a serious health issue. Phonak provides the world’s most innovative hearing solutions for virtually every degree of hearing loss, regardless of age, lifestyle, or cosmetic preference of the user.
You may not consider your digestive system when you think about your overall well-being — but that's where good health and proper nutrition begins. For 80 years, people around the world have been making Yakult a part of their daily diet.
Acute hepatic porphyria, or AHP, refers to a family of rare, genetic diseases characterized by potentially life-threatening attacks and, for some people, chronic pain and other debilitating symptoms that negatively impact everyday life.