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Q: Trying to find information about "Mucopoysacchdridosis" ( Answered 5 out of 5 stars,   0 Comments )
Subject: Trying to find information about "Mucopoysacchdridosis"
Category: Health > Conditions and Diseases
Asked by: ewang-ga
List Price: $20.00
Posted: 07 Nov 2002 10:43 PST
Expires: 07 Dec 2002 10:43 PST
Question ID: 101300
Our neurologist told us today that our middle daughter might fit the
diagnosis for "Mucopoysacchdridosis". He gave us some very minimal
information, but I'd like to find resources that cover the
cause/symptomology/and course of this disorder.
Subject: Re: Trying to find information about "Mucopoysacchdridosis"
Answered By: luciaphile-ga on 07 Nov 2002 13:04 PST
Rated:5 out of 5 stars
Hi ewang-ga,

Thanks for your question.  I know first hand how frustrating it can be
to be confronted in a stressful and difficult situation with a medical
term of which you are not familiar.  Hopefully, my answer will give
you the information you need.

From my research, I determined that the correct spelling is:
mucopolysaccharidoses (an alternate spelling is
mucopolysaccharidosis), which is also referred to as MPS.

Let me begin by giving you some definitions of that:

Mucopolysaccharidoses: “any of a group of genetic disorders, including
Hurler Syndrome, in which greater than normal levels of
mucopolysaccharides accumulate in the tissue. The diseases, which can
be detected through amniocentesis, are characterized by skeletal
deformity, mental retardation, and shortened life expectancy.”

Selected Definitions of Medical Terms Related to MPS

“Group of lysosomal storage diseases each caused by an inherited
deficiency of an enzyme involved in the degradation of
glycosaminoglycans (mucopolysaccharides). The diseases are progressive
and often display a wide spectrum of clinical severity within one
enzyme deficiency.”

National Library of Medicine’s MeSH (medical subject heading)

“Any of a group of lysosomal storage diseases that have in common a
disorder in metabolism of mucopolysaccharides, as evidenced by
excretion of various mucopolysaccharides in urine and infiltration of
these substances into connective tissue, with resulting various
defects of bone, cartilage, connective tissue, and other organs.”

Stedman’s Online Medical Dictionary

Let’s unpack that a little for you.

Mucopolysaccharidoses literally breaks down to:
Muco refers to gel-like consistency
Poly means “many”
Saccharide is a sugar molecule

What is MPS?

A mucopolysaccharide is “any of a group of complex carbohydrates that
are structural parts of connective tissue.”

Lysosomal storage diseases are “a group of hereditary disorders caused
by defective genes that keep the body from producing particular
enzymes that break down complex molecules in the body”


Types of MPS:

There are a number of forms of MPS. Since you didn’t mention which
form the neurologist is looking into (or perhaps he/she is not sure of
the type yet), I’m going to give you information for the main ones I

MPS I: includes Scheie, Hurler and Hurler/Scheie syndromes.
Hurler syndrome is considered very severe.  The body is unable to make
an enzyme called lysosomal alpha-L-iduronate. Symptoms include:
clouding of the cornea, severe mental retardation, short stature,
thick, coarse facial features, hirsutism (increased body hair),
umbilical hernia, deafness, stiffness in the joints, shortness of
breath, abnormal bones of spine and claw hand.

At this time, there is no treatment for Hurler syndrome. Bone marrow
transplantation is a possible course to slow the progression of the
disease.  Death can occur before age 10.

MEDLINEplus Encyclopedia: Hurler syndrome
NINDS Mucopolysaccharidoses Information Page

Scheie syndrome sufferers may experience milder forms of symptoms than
those with Hurler syndrome. Symptoms include: family history of the
syndrome, coarsened facial features, stiffness of joints, claw hands,
hirsutism, cloudy corneas, but also “normal intelligence, stature and
life span.”

As with Hurler syndrome, there is no specific treatment. There is some
research into enzyme replacement therapy.

It is “compatible with an almost normal lifespan,” although some
disabilities are likely to develop in the later years.

MEDLINEplus Encyclopedia: Scheie syndrome

NINDS Mucopolysaccharidoses Information Page

Hurler/Scheie syndrome sufferers fall somewhere in the middle between
the two. Symptoms and prognosis are intermediate.

NINDS Mucopolysaccharidoses Information Page

MPS II is also known as Hunter syndrome
Hunter syndrome is, as with the others, hereditary.  Sufferers have
“degradation of a mucopolysaccharide (a chemical that is widely
distributed in the body outside of cells) is defective. Inability to
break down this mucopolysaccharide leads to its accumulation and
storage in body tissues.”

There are two types: early-onset (more severe) and late-onset (less

Symptoms for both include: stiffness of the joints, coarse facial
features, large head, increased hair, progressive deafness, enlarged
internal organs (such as liver and spleen), carpal tunnel syndrome.

The early-onset variety may be typified by mental deterioration,
mental retardation, aggressive behavior, and hyperactivity. Life
expectancy is 10-20 years. Those with the late-onset type may have
mild to no mental deficiency. Life expectancy is 20-60 years.

Again, there is no specific treatment. Particular complications are
treated separately. There has been some research into bone marrow
transplant (variable results) and enzyme replacement therapy.

MEDLINEplus Encyclopedia: Hunter syndrome

NINDS Mucopolysaccharidoses Information Page

MPS III is also known as Sanfilippo syndrome
Again, this is a hereditary disease.  Sufferers lack one of several
enzymes that “help the body get rid of a substance normally found
outside of our cells called a mucopolysaccharide. This substance is
called heparan sulfate, and in Sanfilippo syndrome, large amounts of
it are excreted in the urine.”

Signs and symptoms include: below average height, coarse facial
features, full lips, stiffened joints, mental deterioration, possible
enlarged liver and/or spleen, seizures, etc. Unlike those afflicted
with Hurler syndrome, there is no clouding of the cornea.

There is no specific treatment for the syndrome, rather, specific
complications are treated separately.

Death may occur before 20 in severe instances. A minority of sufferers
live a normal lifespan, but may suffer blindness and/or seizures.

MEDLINEplus: Sanfilippo syndrome

NINDS Mucopolysaccharidoses Information Page

MPS IV is also known as Morquio syndrome
There are two forms of this syndrome. Type A disease sufferers have an
absence of an enzyme called galactosamine-6-sulfatase. Type B disease
sufferers are deficient in beta galactosidase enzyme.

Symptoms include: coarsened facial features, large head, knock knees,
widely-spaced teeth, short stature, hypermobile joints, spinal cord
compression, cloudy corneas, enlarged liver, etc. Intelligence is

Particular symptoms are treated as they occur. MRIs may be conducted
to determine development (or lack thereof) of the upper vertebrae. 
There is possibility of bone marrow transplantation or enzyme
replacement therapy sometime in the future.

Cardiac or respiratory problems may result in death in the patient’s
30s or 40s.

MEDLINEplus: Morquio syndrome

NINDS Mucopolysaccharidoses Information Page

MPS VI is also known as Maroteaux-Lamy syndrome (alternate spelling

This is a more rare form of mucopolysaccharidoses. Its sufferers are
missing an enzyme called N-Acetylgalactosamine 4 sulphatase. Symptoms
are similar to those with Hurler syndrome. Intelligence is normal.
There appear to be different degrees of severity. Those afflicted with
it may live into their twenties or thirties.

As with the other forms of mucopolysaccharidoses, there is no specific

MPS VI- Maroteaux-Lamy

NINDS Mucopolysaccharidoses Information Page

MPS VII is also known as Sly disease
This is another rare form of mucopolysaccharidoses. Symptoms include
clouding of the corneas, skeletal irregularities, enlarged liver
and/or spleen, and varying degrees of intellectual impairment.


NINDS Mucopolysaccharidoses Information Page
Additional Information:

You may wish to get in contact with the National MPS Society.  
The National MPS Society, Inc.
102 Aspen Drive
Downington, PA 19335
Telephone: 610-942-0100
Fax: 610-942-7188

Some other links that may be of help and interest are:

The National MPS Society, Inc.


MPS Disorder Fact Sheet

Parents of MPSI (Hurler, Hurler-Scheie, & Scheie Syndromes) Forum

Search strategy:

In addition to the Google searches below, I went directly to several
sites, including the NLM ones.

Google search:
mps syndromes

Google/Uncle Sam (://
Mps syndromes

I hope I’ve been able to give you the information you need.  If you
need additional information and/or explanation, please ask for
clarification and I’ll be happy to assist you.  My best wishes for
your daughter and your family.

ewang-ga rated this answer:5 out of 5 stars
Excellent Job. If only the neurologist had been as thorough!

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