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Hurler Syndrome (named after Gertrude Hurler) is a condition where the lysosomes in the cell become clogged with a mucous-like substance, and are unable to break down cellular waste. This is especially hard on the internal organs (most notably, the kidneys) because they must work harder to filter the blood.
Many people are killed by Hurler Syndrome because of organ failure.
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What is significant about Hurler Syndrome?
Individuals with Hurler syndrome tend to have the most severe form of MPS I. Hurler syndrome may also be referred to as severe MPS I.
How common is hurler syndrome?
about 1/100,000 people have it.
What chromosomes are affected with hurler syndrome?
chromosome 4
What are the later symptoms of Hurler syndrome in children?
Affected children with Hurler syndrome lose previously attained skills (milestones) and eventually suffer from profound mental retardation
On which chromosome is the defective gene located in Hurler's syndrome?
chromosome 4
Who has hurler syndrome?
people who have pig like noses and maybe an obesity problem
What is hurley syndrome?
Hurler Syndrome also known as (mucopolysaccharldosis)is a genetic disorder which is a hereditary defective gene. It is a rare, inherited disease of metabolism in which you cannot break down long chains of sugar molecules called glycosaminoglycan.
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.
When was Tommy Doyle - hurler - born?
Tommy Doyle - hurler - was born in 1915.
When was John O'Grady - hurler - born?
John McGrath - hurler - was born in 1928.
When was Frank Cummins - Dublin hurler - born?
Frank Cummins - Dublin hurler, (not to be confused with the Kilkenny Hurler of the same name) - was born in 1925.
When was Mick Malone - hurler - born?
Mick Neville - hurler - was born on 1891-02-14.
