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.
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NeurAxis is dedicated to making sure those who need IB-Stim have access to this safe and effective non-drug alternative for Functional Abdominal Pain due to Irritable Bowel Syndrome in patients aged 11-18 years old.
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Solution for functional abdominal pain due to IBS in teenagers, and professional childcare services at Alvey’s Education.
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The annual Country Music Awards show took place last night at the Moody Center in Austin Texas. The award show aired live on CBS and streamed on Paramount+. Kelsea Ballerini hosted the show and country music’s biggest stars attended. The CMT Music Awards had first-time nominees including Amber Riley, Ashley Cooke, Bret Michaels, Chayce Beckham, Hozier, Koe Wetzel, Stephen […]
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