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- $Unique_ID{BRK04008}
- $Pretitle{}
- $Title{Morquio Syndrome}
- $Subject{Morquio Syndrome Mucopolysaccharidosis IV MPS IV Morquio Disease
- Morquio Syndrome A Galactosamine-6-Sulfatase Deficiency Morquio-Brailsford
- Syndrome Osteochondrodystrophy Deformans Chondroosteodystrophy Morquio
- Syndrome B Beta-Galactosidase Deficiency Morquio Syndrome}
- $Volume{}
- $Log{}
-
- Copyright (C) 1986, 1987, 1988, 1990 National Organization for Rare
- Disorders, Inc.
-
- 299:
- Morquio Syndrome
-
- ** IMPORTANT **
- It is possible the main title of the article (Morquio Syndrome) is not
- the name you expected. Please check the SYNONYMS listing to find the
- alternate names and disorder subdivisions covered by this article.
-
- Synonyms
-
- Mucopolysaccharidosis IV
- MPS IV
- Morquio Disease
-
- DISORDER SUBDIVISIONS
-
- Morquio Syndrome A
- Galactosamine-6-Sulfatase Deficiency
- Morquio-Brailsford Syndrome
- Osteochondrodystrophy Deformans
- Chondroosteodystrophy
- Morquio Syndrome B
- Beta-Galactosidase Deficiency Morquio Syndrome
-
- General Discussion
-
- ** REMINDER **
- The information contained in the Rare Disease Database is provided for
- educational purposes only. It should not be used for diagnostic or treatment
- purposes. If you wish to obtain more information about this disorder, please
- contact your personal physician and/or the agencies listed in the "Resources"
- section of this report.
-
-
- Mucopolysaccharidoses (MPS Disorders) are a group of rare genetic
- disorders caused by the deficiency of one of ten specific lysosomal enzymes,
- resulting in an inability to metabolize complex carbohydrates
- (mucopolysaccharides) into simpler molecules. The accumulation of these
- large, undegraded mucopolysaccharides in the cells of the body causes a
- number of physical symptoms and abnormalities.
-
- Morquio Syndrome (MPS IV) exists in 2 forms:
- Morquio Syndromes A and B are due to a deficiency in the enzyme N-acetyl-
- galactosamine-6-sulfatase and beta-galactosidase, respectively. Deficiency
- of either enzyme leads to an accumulation of keratan sulfate and bony
- abnormalities of the head, chest, hands, knees and spine may occur as a
- result of this metabolic defect, with preservation of intellect. The
- skeletal abnormalities in MPS IV-B are usually milder than in MPS IV-A.
-
- Symptoms
-
- Developmental abnormalities occurring in Morquio Syndrome may be detected as
- early as 18 months to 2 years of age. The skeletal abnormalities are milder
- in Morquio Syndrome A than in Morquio Syndrome B. These may include an
- enlarged head, a broad mouth, prominent cheekbones, an unusually small nose,
- widely spaced and thinly enameled teeth, and widely separated eyes with
- corneal clouding. Later, patients tend to develop abnormally short necks,
- short barrel chests, disproportionately long arms, enlarged and possibly
- hyperextensible wrists, stubby hands and "knock knees". Together with the
- misaligned knees and knobby joints, the child may be "pigeon-toed", causing a
- wobbly gait. The joint laxity and bony abnormalities of the spine can result
- in life-threatening spinal cord compression. Surgery to stabilize the upper
- cervical spine, usually by spinal fusion, can be lifesaving.
-
- There may also be enlargement of the liver, curvature of the spine
- (thoracic kyphoscoliosis), flow of blood from the aorta back into the left
- ventricle of the heart (aortic regurgitation), and hearing loss.
-
- Causes
-
- Morquio Disease is an autosomal recessive hereditary disorder in which a
- deficiency of galactosamine 6 sulfatase in type A of the disorder, and a
- deficiency of beta-galactosidase in type B, leads to an accumulation of
- keratan sulfate in the urine. (Human traits including the classic genetic
- diseases, are the product of the interaction of two genes for that condition,
- one received from the father and one from the mother. In recessive
- disorders, the condition does not appear unless a person inherits the same
- defective gene from each parent. If one receives one normal gene and one
- gene for the disease, the person will be a carrier for the disease, but
- usually will show no symptoms. The risk of transmitting the disease to the
- children of a couple, both of whom are carriers for a recessive disorder, is
- twenty-five percent. Fifty percent of their children will be carriers, but
- healthy as described above. Twenty-five percent of their children will
- receive both normal genes, one from each parent and will be genetically
- normal.)
-
- Affected Population
-
- Morquio Syndrome affects males as often as females. The disorder occurs in
- less than 1 in 100,000 live births except in the French-Canadian population
- where it is known to be the most common type of mucopolysaccharidoses.
-
- Related Disorders
-
- There are many types of Mucopolysaccharidosis. Information about each of
- these types of MPS can be located in the Rare Disease Database. (For more
- information, choose "MPS Disorders" as your search term in the Rare Disease
- Database.)
-
- DiFerrante syndrome (mucopolysaccharidosis VIII) is a disorder described
- in a single patient with clinical and biochemical features of Morquio and
- Sanfilippo syndromes. The disorder had been reported to be due to a
- deficiency of glucosamine-6-sulfate sulfatase. Subsequently, this disorder
- was called MPS VIII (DiFerrante syndrome). Dr. DiFerrante later found that
- the enzyme was normal in his patient, and the disorder had been misdiagnosed.
- Therefore, DiFerrante syndrome is not a valid medical disorder.
-
- The Mucolipidoses are a family of similar disorders, producing symptoms
- very much like those of the Mucopolysaccharidoses.
-
- I-cell disease, or Mucolipidosis Type II, resembles Hurler syndrome and
- the two disorders are very difficult to distinguish. I-cell disease has
- similar physical and mental deterioration as MPS I, but usually occurs
- earlier and is more severe. I-cell diseases is characterized by diffused
- deficiency of lysosomal enzymes with the cell and is not associated with
- excretion of mucopolysaccharides in the urine.
-
- Pseudo-Hurler Polydystrophy (Mucolipidosis III) is also transmitted by
- autosomal inheritance, but it is characterized by a deficiency of multiple
- lysosomal enzymes needed to break down mucopolysaccharides. ML III affects
- males more often than females, and can be identified by such symptoms as
- claw-like hands, somewhat coarse facial features, dwarfism and pain in the
- hands. Intelligence tends to be normal in most patients, but mild mental
- retardation is sometimes present.
-
- Ganglioside Sialidase Deficiency (Mucolipidosis IV) is a disorder of
- unknown cause characterized by early clouding of the cornea, mild to moderate
- mental retardation and enlargement of spleen and liver.
-
- (For more information on the Mucolipidoses, choose "ML Disorder" as your
- search term in the Rare Disease Database.)
-
- Therapies: Standard
-
- Treatment of Morquio Syndrome is symptomatic and supportive. Physical
- therapy and special educational services may be helpful. Genetic counseling
- may be helpful to the parents of patients with Morquio Syndrome. Prenatal
- diagnosis is now possible for this disorder.
-
- Therapies: Investigational
-
- Since prenatal diagnosis is now possible through amniocentesis and sampling
- of a tissue layer in the embryo (chorionic villus sampling), new treatments
- aimed at checking early development of Morquio Syndrome are now under study.
- One method involves replacing defective enzymes via enzyme replacement
- therapy and/or bone marrow transplants. Scientific study of gene replacement
- in animal models raises the hope that gene replacement may someday be made
- available to people with genetic disorders such as Morquio Syndrome.
-
- The Mayo Clinic is investigating the use of Alpha Interferon as a
- treatment for Morquio Syndrome. For more information, physicians can
- contact:
-
- Morie A. Gertz, M.D.
- Dept. of Hematology & Internal Medicine
- Mayo Clinic
- Rochester, MN 55905
- (507) 284-2511
-
- This disease entry is based upon medical information available through
- January 1990. Since NORD's resources are limited, it is not possible to keep
- every entry in the Rare Disease Database completely current and accurate.
- Please check with the agencies listed in the Resources section for the most
- current information about this disorder.
-
- Resources
-
- For more information on Morquio Syndrome, please contact:
-
- National Organization for Rare Disorders (NORD)
- P.O. Box 8923
- New Fairfield, CT 06812-1783
- (203) 746-6518
-
- MPS (Mucopolysaccharidoses) Research Funding Center, Inc.
- 1215 Maxfield Road
- Hartland, MI 48029
- (313) 363-4412
-
- National MPS Society
- 17 Kramer Street
- Hicksville, NY 11801
- (516) 931-6338
-
- National Digestive Diseases Information Clearinghouse
- Box NDDIC
- Bethesda, MD 20892
- (301) 468-6344
-
- Society of Mucopolysaccharide Diseases, Inc.
- 382 Parkway Blvd.
- Flin Flon, Manitoba, Canada R8A OK4
-
- Society of MPS Diseases
- 30 Westwood Drive
- Little Chalfont, Bucks, England
-
- For information on genetics and genetic counseling referrals, please
- contact:
-
- March of Dimes Birth Defects Foundation
- 1275 Mamaroneck Avenue
- White Plains, NY 10605
- (914) 428-7100
-
- Alliance of Genetic Support Groups
- 35 Wisconsin Circle, Suite 440
- Chevy Chase, MD 20815
- (800) 336-GENE
- (301) 652-5553
-
- References
-
- MPS Society Brochure.
-
- BIRTH DEFECTS COMPENDIUM, 2nd ed.: Daniel Bergsma, ed: March of Dimes,
- 1979. P. 732.
-
- MENDELIAN INHERITANCE IN MAN, 6th ed.: Victor A McKusick; Johns Hopkins
- University Press, 1983. Pp. 840-841.
-
-