Hurler's Disease (Noun)
Meaning
Hereditary disease (autosomal recessive) consisting of an error is mucopolysaccharide metabolism; characterized by severe abnormalities in development of skeletal cartilage and bone and mental retardation.
Classification
Nouns denoting natural processes.
Examples
- Children with Hurler's disease are typically born with a normal physical appearance, but begin to exhibit noticeable symptoms by age 2.
- Prenatal diagnosis is available for families at risk for Hurler's disease by amniocentesis and chorionic villus sampling.
- As with most other forms of Hurler's disease, enzyme replacement therapy can only be started after diagnosis by medical specialists and following special regulatory and scientific evaluations.
- However, medical literature reveals that one should have complete clinical diagnosis to tell Hurler's disease from related but slightly different syndromes, as symptoms might have varying similarities and to administer effective therapy on a trial basis only to known, accurately identified, victims.
- Those suffering from Hurler's disease exhibit mild physical features that typically accompany slow growth.