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A member asked:
Hurlers? my friends baby had it and died.
6 doctors weighed in across 2 answers
Rare inherited dz: Belongs to a group of diseases known as the mucopolysaccaridoses. Affected individuals are unable to produce an enzyme that breaks down long chains of sugar. These long chains of sugar build up/damage organs like the heart. Symptoms can be mild to severe/death (deaf, mental retardation, joint-bone dz, clouded corneas, etc). Both parents must pass the faulty gene in order to have an affected child.
Answered 12/25/2013
6k views
Cruel disease: This inborn error of metabolism causes children to get sicker and sicker over years. The enzyme replacement treatment is enormously expensive and not very effective, and prolongs the dying process. Your friend has my sympathy, and I am glad you are there for them.
Answered 8/29/2012
5.6k views
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