Webster's New World Medical Dictionary



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Webster s New World Medical Dictionary (1)

mucolipidosis II
See 
I-cell disease.
mucolipidosis III
A type of mucolipidosis that is
characterized by deficiency of the enzyme N-acetyl-
glucosamine-1-phosphotransferase and features of
Hurler syndrome, but with much slower progres-
sion. Also known as pseudo-Hurler polydystrophy.
mucolipidosis IV
A type of mucolipidosis that is
due to mutation in the gene that encoded mucol-
ipin-1. Most patients with mucolipidosis IV have
developmental delay, mental retardation, clouding
of the cornea of the eye, and severe visual impair-
ment.
mucopolysaccharidosis
One of several inher-
ited metabolic disorders that affect carbohydrate use
by the body. Abbreviated MPS. Substances derived
from carbohydrates that are called mucopolysaccha-
rdes, or glycosaminoglycans (GAGs), accumulate in
body tissues because the body lacks the specific
enzymes needed to metabolize or digest them. This
accumulation damages and distorts tissues, stunts
growth, limits muscle and joint movement, and may
cause mental retardation. MPS is believed to occur
in about 1 in every 25,000 births. It usually becomes
obvious in early childhood and leads to death before
middle age. There are currently no treatments avail-
able for any form of MPS, although enzyme replace-
ment therapies are being researched and
bone-marrow transplants have been tried on
patients with MPS type I (Hurler syndrome) with
some limited success. See also 
Hunter syndrome;
Hurler syndrome; Maroteaux-Lamy syndrome;
Morquio syndrome; Sanfilippo syndrome.
mucopolysaccharidosis type I
Also known as
Hurler syndrome, Scheie syndrome, and Hurler-
Scheie syndrome. See also 
Hurler syndrome.
mucopolysaccharidosis type II
See 
Hunter
syndrome.

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