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Hurler syndrome
English Wikipedia - The Free Encyclopedia
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Hurler syndrome
Hurler syndrome
, also known as
mucopolysaccharidosis
type I
(
MPS I
),
Hurler's disease
, also
gargoylism
, is a
genetic disorder
that results in the buildup of
glycosaminoglycans
(formerly known as mucopolysaccharides) due to a deficiency of
alpha-L iduronidase
, an
enzyme
responsible for the degradation of
mucopolysaccharides
in
lysosomes
. Without this enzyme, a buildup of
heparan sulfate
and
dermatan sulfate
occurs in the body.
Symptoms
appear during childhood and early death can occur due to
organ
damage.
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