6 doctors weighed in:

Hurlers? My friends baby had it and died.

6 doctors weighed in
4 doctors agree

In brief: 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.

In brief: 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.
Dr. Michael H. T. Sia
Dr. Michael H. T. Sia
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Dr. Ed Friedlander
Pathology

In brief: 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.

In brief: 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.
Dr. Ed Friedlander
Dr. Ed Friedlander
Thank
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