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'''For patient information click [[Hurler syndrome (patient information)|here]]'''
'''For patient information click [[Hurler syndrome (patient information)|here]]'''
{{DiseaseDisorder infobox |
 
  Name        = Hurler syndrome |
  ICD10      = {{ICD10|E|76|0|e|70}} |
  ICD9        = {{ICD9|277.5}} |
}}
{{Hurler syndrome}}
{{Hurler syndrome}}
{{CMG}}
{{CMG}}; {{AE}} {{ADI}}


{{SK}} Alpha-L-iduronidase deficiency; Hurler-Pfaundler syndrome, Hurler-Hunter syndrome, Hunter’s syndrome, Johnie McL disease, Pfaundler-Hurler disease, Pfaundler-Hurler syndrome, Sheldon-Ellis syndrome, Thompson’s syndrome, Hurler's disease, Hurler's syndrome
{{SK}} Alpha-L-iduronidase deficiency; Hurler-Pfaundler syndrome, Hurler-Hunter syndrome, Hunter’s syndrome, Johnie McL disease, Pfaundler-Hurler disease, Pfaundler-Hurler syndrome, Sheldon-Ellis syndrome, Thompson’s syndrome, Hurler's disease, Hurler's syndrome


==Overview==
==[[Hurler syndrome overview|Overview]]==


'''Hurler syndrome''', also known as '''[[mucopolysaccharidosis]] type I''' ('''MPS I'''), '''Hurler's disease''' and '''gargoylism'''<ref>Gargoylism. gpnotebook.co.uk. URL: [http://www.gpnotebook.co.uk/cache/1644560391.htm http://www.gpnotebook.co.uk/cache/1644560391.htm]. Accessed on: April 29, 2007.</ref>, is a [[genetic disorder]] that results in the deficiency of [[alpha-L iduronidase]], which is an [[enzyme]] that breaks down [[mucopolysaccharides]].  Without this enzyme, the buildup of [[heparan sulfate]] and [[dermatan sulfate]] occurs in the body (the [[heart]], [[liver]], [[brain]] etc.). [[Symptom]]s appear during childhood and early death can occur due to [[organ (anatomy)|organ]] damage.
==[[Hurler syndrome historical perspective|Historical Perspective]]==


==Classification==
==[[Hurler syndrome classification|Classification]]==
MPS I is divided into three subtypes based on severity of symptoms. All three types result from an absence of, or insufficient levels of, the enzyme alpha-L-iduronidase. MPS I H or Hurler syndrome is the most severe of the MPS I subtypes. The other two types are MPS I S or [[Scheie syndrome]] and MPS I H-S or [[Hurler-Scheie syndrome]].


Hurler's Syndrome is often classified as a [[lysosomal storage disease]] and is mechanistically related to Hunter's Syndrome (X-linked recessive).
==[[Hurler syndrome pathophysiology|Pathophysiology]]==


==Pathophysiology==
==[[Hurler syndrome causes|Causes]]==


Children born to an MPS I parent carry a defective IDUA gene, which has been mapped to the 4p16.3 site on chromosome 4.  The gene is named IDUA because of its iduronidase enzyme protein product.  As of 2001, 52 different mutations in the IDUA gene have been shown to cause Hurler syndrome. 
==[[Hurler syndrome differential diagnosis|Differentiating Hurler syndrome from other Diseases]]==


Because Hurler syndrome is an [[autosomal]] recessive disorder, affected persons have two bad copies of the IDUA gene.  If someone is born with one normal and one defective copy of the gene he is called a carrier and will produce less alpha-L-iduronidase than an individual with two normal copies of the gene.  The reduced production of the enzyme, however, is sufficient for normal function and the person should not show any symptoms of the disease.
==[[Hurler syndrome epidemiology and demographics|Epidemiology and Demographics]]==


==Diagnosis==
==[[Hurler syndrome risk factors|Risk Factors]]==


The condition is marked by progressive deterioration, [[hepatosplenomegaly]], [[dwarfism]] and gargoyle-like faces. There is a progressive [[mental retardation]], with death frequently occurring by the age of 10 years.
==[[Hurler syndrome screening|Screening]]==


Developmental delay is evident by the end of the first year, and patients usually stop developing between ages 2 and 4. This is followed by progressive mental decline and loss of physical skills. [[Language]] may be limited due to [[hearing loss]] and an enlarged [[tongue]]. In time, the clear layers of the [[cornea]] become clouded and [[retina]]s may begin to degenerate. [[Carpal tunnel syndrome]] (or similar compression of [[nerve]]s elsewhere in the body) and restricted [[joint]] movement are common.
==[[Hurler syndrome natural history, complications and prognosis|Natural History, Complications and Prognosis]]==


Affected children may be quite large at [[childbirth|birth]] and appear normal but may have inguinal (in the groin) or umbilical (where the [[umbilical cord]] passes through the [[abdomen]]) hernias. Growth in height may be initially faster than normal, then begins to slow before the end of the first year and often ends around age 3. Many children develop a short body trunk and a maximum stature of less than 4 feet. Distinct facial features (including flat face, depressed nasal bridge, and bulging forehead) become more evident in the second year. By age 2, the ribs have widened and are oar-shaped. The [[liver]], [[spleen]] and [[heart]] are often enlarged. Children may experience noisy breathing and recurring upper respiratory tract and [[ear]] [[infection]]s. Feeding may be difficult for some children, and many experience periodic bowel problems. Children with Hurler syndrome often die before age 10 from obstructive airway disease, respiratory infections, or cardiac complications.
==Diagnosis==
 
There is some clinical similarity with [[Hunter syndrome]].


Diagnosis often can be made through clinical examination and urine tests (excess mucopolysaccharides are excreted in the [[urine]]). Enzyme assays (testing a variety of cells or body fluids in culture for enzyme deficiency) are also used to provide definitive diagnosis of one of the mucopolysaccharidoses. [[Prenatal diagnosis]] using [[amniocentesis]] and [[chorionic villus sampling]] can verify if a [[fetus]] either carries a copy of the defective [[gene]] or is affected with the disorder. [[Genetic counseling]] can help parents who have a family history of the mucopolysaccharidoses determine if they are carrying the mutated gene that causes the disorders.
[[Hurler syndrome history and symptoms|History and Symptoms]] | [[Hurler syndrome physical examination|Physical Examination]] | [[Hurler syndrome laboratory findings|Laboratory Findings]] | [[Hurler syndrome electrocardiogram|Electrocardiogram]] | [[Hurler syndrome x ray|X Ray]] | [[Hurler syndrome CT|CT]] | [[Hurler syndrome MRI|MRI]] | [[Hurler syndrome echocardiography or ultrasound|Echocardiography or Ultrasound]] | [[Hurler syndrome other imaging findings|Other Imaging Findings]] | [[Hurler syndrome other diagnostic studies|Other Diagnostic Studies]]
 
'''Radiograph of a patient with Hurler's syndrome'''
<gallery>
Image:
 
Hurler syndrome 001.jpg
 
</gallery>


==Treatment==
==Treatment==


Enzyme replacement therapies are currently in use, [[BioMarin Pharmaceutical]] provides therapeutics for mucopolysaccaradosis type I (MPS I), by manufacturing Aldurazyme® (commercialized by [[Genzyme]] Corporation). Enzyme replacement therapy has proven useful in reducing non-neurological symptoms and pain.
[[Hurler syndrome medical therapy|Medical Therapy]] | [[Hurler syndrome surgery|Surgery]] | [[Hurler syndrome primary prevention|Primary Prevention]] | [[Hurler syndrome secondary prevention|Secondary Prevention]] | [[Hurler syndrome cost-effectiveness of therapy|Cost-Effectiveness of Therapy]] | [[Hurler syndrome future or investigational therapies|Future or Investigational Therapies]]


[[Bone marrow transplantation]] (BMT) and [[umbilical cord blood transplantation]] (UCBT) can successfully treat the mucopolysaccharidoses. Abnormal physical characteristics, except for those affecting the skeleton and eyes, can be improved, and neurologic degeneration can often be halted. BMT and UCBT are high-risk procedures with high rates of morbidity and mortality. However, they are the only treatments that have the potential to cure the disease.
==Case Studies==
 
[[Hurler syndrome case study one|Case #1]]
==Epidemiology==
 
Hurler syndrome has an overall frequency of ca. 1 per 115,000 population.
 
==References==
{{reflist|2}}


{{Endocrine, nutritional and metabolic pathology}}
{{Endocrine, nutritional and metabolic pathology}}
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{{WikiDoc Sources}}
{{WikiDoc Sources}}


[[Category:Genetic disorders]]
 
[[Category:Gastroenterology]]
[[Category:Hepatology]]
[[Category:Hepatology]]
[[Category:Syndromes]]
[[Category:Mature chapter]]
[[Category:Metabolic disorders]]
[[Category:Lysosomal storage diseases]]
[[Category:Cardiology]]
[[Category:Cardiology]]
[[Category:Psychiatry]]
[[Category:Psychiatry]]
[[Category:Disease]]
[[Category:Disease]]
[[Category:Inborn errors of metabolism]]

Latest revision as of 16:26, 19 July 2016

For patient information click here

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Aditya Govindavarjhulla, M.B.B.S. [2]

Synonyms and keywords: Alpha-L-iduronidase deficiency; Hurler-Pfaundler syndrome, Hurler-Hunter syndrome, Hunter’s syndrome, Johnie McL disease, Pfaundler-Hurler disease, Pfaundler-Hurler syndrome, Sheldon-Ellis syndrome, Thompson’s syndrome, Hurler's disease, Hurler's syndrome

Overview

Historical Perspective

Classification

Pathophysiology

Causes

Differentiating Hurler syndrome from other Diseases

Epidemiology and Demographics

Risk Factors

Screening

Natural History, Complications and Prognosis

Diagnosis

History and Symptoms | Physical Examination | Laboratory Findings | Electrocardiogram | X Ray | CT | MRI | Echocardiography or Ultrasound | Other Imaging Findings | Other Diagnostic Studies

Treatment

Medical Therapy | Surgery | Primary Prevention | Secondary Prevention | Cost-Effectiveness of Therapy | Future or Investigational Therapies

Case Studies

Case #1

Template:Endocrine, nutritional and metabolic pathology

Template:WikiDoc Sources

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