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Scheie syndrome is an inherited disease of metabolism in which the body cannot properly break down long chains of sugar molecules called glycosaminoglycans (formerly called mucopolysaccharides).
The syndrome belongs to a group of diseases called mucopolysaccharidoses (MPS). Specifically, it is known as MPS I S.
See also:
- MPS I H (Hurler syndrome)
- MPS II, Hunter syndrome
- MPS IV Morquio syndrome
- MPS III (Sanfilippo syndrome)
Mucopolysaccharidosis type I S; MPS I S
Causes, incidence, and risk factorsPersons with Scheie syndrome are missing a substance called lysosomal alpha-L-iduronidase. This substance, called an enzyme, helps break down long chains of sugar molecules called glycosaminoglycans (formerly called mucopolysaccharides). These molecules are found throughout the body, often in mucus and in fluid around the joints.
Without the enzyme, glycosaminoglycans build up. This excess material is stored in body tissues and can damage organs, including the heart. Symptoms can range from mild to severe.
Scheie syndrome is the mildest form of mucopolysaccharidosis type 1. The syndrome is transmitted as an autosomal recessive trait. That means that both parents must pass along the defective gene for the offspring to have the disease.
SymptomsSymptoms may not appear until age 4 or 5, and may include:
- Broad mouth with full lips
- Claw hands and deformed feet
- Cloudy corneaand progressive loss of vision, resulting in blindness
- Coarsened facial features
- Increased body hair (hirsutism)
- Prognathism
- Stiff joints
A physical exam may show signs of:
- Aortic regurgitation
- Hearing loss
- Hernias -- inguinal hernia, umbilical hernia
- Liver swelling
- Prognathism
An eye exam will show cloudy corneas and retinal pigmentation.
Urine tests will be done. Persons with Scheie syndrome have increased amounts of dermatan and heparan sulfate in their urine. See: Urine dermatan sulfate
Other tests may include:
- Blood culture
- Culture of skinfibroblasts
- Echocardiogram
- X-ray of the skeleton
Enzyme replacement therapy for patients with a defect in the enzyme a-L-iduronidase is now possible. This includes individuals with Scheie syndrome, but also Hurler and Hurler-Scheie syndromes.
Early recognition and treatment of spinal cord compression can prevent permanent nerve damage. Treatment is also given for heart problems caused by leaky valves.
Support GroupsThe National MPS Society -- www.mpssociety.org
Expectations (prognosis)Scheie syndrome is compatible with an almost normal lifespan. However, some disabilities such as limitation of joints, blindness, or deafness are likely to occur later in life.
Complications- Compression of the spinal cord, which can lead to loss of nerve function
- Extremity deformities
- Hearing lossand deafness
- Problems with the aortic valve
- Vision problems
Call your health care provider if you have symptoms of this disorder.
PreventionGenetic counseling is recommended for prospective parents with a family history of Scheie syndrome. Counseling is also recommended for families who have a child with Scheie syndrome, to help them understand the condition and possible treatments.
What else can I help you with?
What is notable about Scheie syndrome?
Scheie syndrome is considered the mild form of MPS I. Individuals with Scheie syndrome usually have normal intelligence
What are the physical symproms of Scheie syndrome?
Common physical problems include corneal clouding, heart abnormalities, and orthopedic difficulties involving the hands and back
What are the physical symptoms of Scheie syndrome?
Common physical problems include corneal clouding, heart abnormalities, and orthopedic difficulties involving the hands and back
What is Arne Scheie's birthday?
Arne Scheie was born on January 7, 1944.
When was Arne Scheie born?
Arne Scheie was born on January 7, 1944.
When was Scheie Eye Institute created?
Scheie Eye Institute was created in 1972.
How old is Arne Scheie?
Arne Scheie is 67 years old (birthdate: January 7, 1944).
What causes the MPS I disorders?
Mutations in the alpha-L-iduronidase (IDUA) gene located on chromosome 4 cause the MPS I disorders (Hurler, Hurler-Scheie, and Scheie syndromes
What are the 7 types of mucopolysaccharidoses?
Hurler (MPS I H), Hurler-Scheie (MPS I H/S), Scheie (MPS I S), Hunter (MPS II), Sanfilippo (MPS III), Morquio (MPS IV), Maroteaux-Lamy (MPS VI),
What movie and television projects has Arne Scheie been in?
Arne Scheie has: Played Kommentator (1990-) in "Sportsrevyen" in 1990. Played Sorrow man in "U" in 1991. Played himself in "Myggen" in 1996. Played himself in "Gylne tider" in 2002. Played Himself - TV sports commentator in "United" in 2003. Played himself in "Showman" in 2009.
What actors and actresses appeared in Myggen - 1996?
The cast of Myggen - 1996 includes: Erik Mykland as himself Egil Olsen as himself Arne Scheie as himself
Hurler syndrome?
DefinitionHurler syndrome is a rare, inherited disease of metabolism in which a person cannot break down long chains of sugar molecules called glycosaminoglycans (formerly called mucopolysaccharides).Hurler syndrome belongs to a group of diseases called mucopolysaccharidoses, or MPS.See also:MPS II (Hunter syndrome)MPS IV (Morquio syndrome)MPS III (Sanfilippo syndrome)MPS I S (Scheie syndrome)Alternative NamesAlpha-L-iduronate deficiency; Mucopolysaccharidosis type I; MPS I HCauses, incidence, and risk factorsPersons with Hurler syndrome do not make a substance called lysosomal alpha-L-iduronidase. This substance, called an enzyme, helps break down long chains of sugar molecules called glycosaminoglycans (formerly called mucopolysaccharides). These molecules are found throughout the body, often in mucus and in fluid around the joints.Without the enzyme, glycosaminoglycans build up and damage organs, including the heart. Symptoms can range from mild to severe.Hurler syndrome is inherited, which means that your parents must pass the disease on to you. Both parents need to pass down the faulty gene in order for you to develop Hurler syndrome.Hurler syndrome is a type of mucopolysaccharidosis called MPS I. Hurler syndrome is the most severe type. It is categorized as MPS I H.The other subtypes of MPS I are:MPS I H-S (Hurler-Scheie syndrome)MPS I S (Scheie syndrome)SymptomsSymptoms of Hurler syndrome most often appear between ages 3 and 8. Infants with severe Hurler syndrome appear normal at birth. Facial symptoms may become more noticeable during the first 2 years of life.Symptoms include:Abnormal bones in the spineClaw handCloudy corneasDeafnessHalted growthHeart value problemsJoint disease, including stiffnessMental retardation that gets worse over timeThick, coarse facial features with low nasal bridgeSigns and testsEKGGenetic testing for the alpha-L-iduronidase (IDUA) geneUrine tests for extra mucopolysaccharidesX-ray of the spineTreatmentEnzyme replacement therapy adds a working form of the missing enzyme to the body.Bone marrow transplant has been used in several patients with this condition. The treatment has had mixed results.Other treatments depend on the organs that are affected.Support GroupsFor more information and support, contact one of the following organizations:The National MPS Society -- www.mpssociety.orgCanadian Society for MPS and Related Diseases -- www.mpssociety.caSociety for MPS Diseases -- www.mpssociety.co.ukExpectations (prognosis)Hurler syndrome is a disease with a poor outlook. Children with this disease develop nervous system problems, and can die young.Calling your health care providerCall your health care provider if:You have a family history of Hurler syndrome and are considering having childrenYour child begins to show symptoms of Hurler syndromePreventionExperts recommend genetic counseling and testing for couples with a family history of Hurler syndrome who are considering having children.ReferencesStaba SL, Escolar ML, Poe M, et al. Cord-blood transplants from unrelated donors in patients with Hurler's syndrome. N Engl J Med. 2004 May 6;350(19):1960-9.National Institute of Neurological Disorders and Stroke. Mucolipidoses Fact Sheet. Office of Communications and Public Liaison. Bethesda, MD; Publication No. 03-5115. February 13, 2007.Wraith JE. Mucopolysaccharidoses and oligosaccharidoses. In: Fernandes J, Saudubray J-m, van den Berghe G, Walter JH, eds. Inborn Metabolic Diseases: Diagnosis and Treatment. 4th ed. New York, NY: Springer;2006:chap 39.
