Hurler syndrome: Difference between revisions
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[[File:Mucopolysaccharidosis_(Hurler's_Syndrome)_1.jpg|Mucopolysaccharidosis ( | {{SI}} | ||
{{Infobox medical condition | |||
| name = Hurler syndrome | |||
| image = [[File:Mucopolysaccharidosis_(Hurler's_Syndrome)_1.jpg|alt=Hurler syndrome]] | |||
| caption = Clinical presentation of Hurler syndrome | |||
| synonyms = [[Mucopolysaccharidosis type I]] (MPS I), [[Gargoylism]] | |||
| pronounce = | |||
| specialty = [[Medical genetics]], [[Pediatrics]] | |||
| symptoms = [[Developmental delay]], [[coarse facial features]], [[hepatosplenomegaly]], [[corneal clouding]], [[hearing loss]] | |||
| onset = Infancy | |||
| duration = Lifelong | |||
| causes = [[Genetic mutation]] in the [[IDUA gene]] | |||
| risks = [[Autosomal recessive]] inheritance | |||
| diagnosis = [[Genetic testing]], [[urine test]] for [[glycosaminoglycans]] | |||
| differential = [[Hunter syndrome]], [[Morquio syndrome]], [[Sanfilippo syndrome]] | |||
| treatment = [[Enzyme replacement therapy]], [[hematopoietic stem cell transplantation]] | |||
| prognosis = Variable, often severe | |||
| frequency = 1 in 100,000 births | |||
}} | |||
'''Hurler syndrome''' (also known as '''Mucopolysaccharidosis type I''', '''MPS I''', or '''Hurler's disease''') is a genetic disorder that results from the buildup of glycosaminoglycans (GAGs) due to a deficiency of the enzyme alpha-L-iduronidase. This enzyme deficiency leads to a range of symptoms and physical abnormalities. | |||
== Signs and Symptoms == | == Signs and Symptoms == | ||
Individuals with Hurler syndrome typically exhibit symptoms within the first year of life. Common signs and symptoms include: | Individuals with Hurler syndrome typically exhibit symptoms within the first year of life. Common signs and symptoms include: | ||
| Line 10: | Line 28: | ||
* Hearing loss | * Hearing loss | ||
* Cardiac issues, such as [[valvular heart disease]] | * Cardiac issues, such as [[valvular heart disease]] | ||
== Genetics == | == Genetics == | ||
Hurler syndrome is inherited in an [[autosomal recessive]] manner. This means that an affected individual must inherit two copies of the defective gene, one from each parent. The gene responsible for Hurler syndrome is located on chromosome 4p16.3 and encodes the enzyme alpha-L-iduronidase. | Hurler syndrome is inherited in an [[autosomal recessive]] manner. This means that an affected individual must inherit two copies of the defective gene, one from each parent. The gene responsible for Hurler syndrome is located on chromosome 4p16.3 and encodes the enzyme alpha-L-iduronidase. | ||
== Diagnosis == | == Diagnosis == | ||
Diagnosis of Hurler syndrome is typically based on clinical presentation and confirmed through enzyme assay tests that measure the activity of alpha-L-iduronidase. Genetic testing can also identify mutations in the IDUA gene. | Diagnosis of Hurler syndrome is typically based on clinical presentation and confirmed through enzyme assay tests that measure the activity of alpha-L-iduronidase. Genetic testing can also identify mutations in the IDUA gene. | ||
== Treatment == | == Treatment == | ||
There is no cure for Hurler syndrome, but treatments are available to manage symptoms and improve quality of life. These include: | There is no cure for Hurler syndrome, but treatments are available to manage symptoms and improve quality of life. These include: | ||
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* [[Hematopoietic stem cell transplantation]] (HSCT) | * [[Hematopoietic stem cell transplantation]] (HSCT) | ||
* Symptomatic treatments, such as surgeries for heart and skeletal issues | * Symptomatic treatments, such as surgeries for heart and skeletal issues | ||
== Prognosis == | == Prognosis == | ||
The prognosis for individuals with Hurler syndrome varies. Without treatment, life expectancy is significantly reduced, often not extending beyond the first decade of life. With early intervention, particularly with HSCT, some individuals may live into adolescence or adulthood. | The prognosis for individuals with Hurler syndrome varies. Without treatment, life expectancy is significantly reduced, often not extending beyond the first decade of life. With early intervention, particularly with HSCT, some individuals may live into adolescence or adulthood. | ||
== History == | == History == | ||
Hurler syndrome was first described by German pediatrician [[Gertrud Hurler]] in 1919. It is one of several types of [[Mucopolysaccharidosis]] disorders, which are collectively known as lysosomal storage diseases. | Hurler syndrome was first described by German pediatrician [[Gertrud Hurler]] in 1919. It is one of several types of [[Mucopolysaccharidosis]] disorders, which are collectively known as lysosomal storage diseases. | ||
== See Also == | == See Also == | ||
* [[Mucopolysaccharidosis]] | * [[Mucopolysaccharidosis]] | ||
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* [[Enzyme replacement therapy]] | * [[Enzyme replacement therapy]] | ||
* [[Hematopoietic stem cell transplantation]] | * [[Hematopoietic stem cell transplantation]] | ||
== See also == | |||
== | |||
* [[Mucopolysaccharidosis]] | * [[Mucopolysaccharidosis]] | ||
* [[Lysosomal storage disease]] | * [[Lysosomal storage disease]] | ||
* [[Enzyme replacement therapy]] | * [[Enzyme replacement therapy]] | ||
* [[Hematopoietic stem cell transplantation]] | * [[Hematopoietic stem cell transplantation]] | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
[[Category:Metabolic disorders]] | [[Category:Metabolic disorders]] | ||
[[Category:Pediatrics]] | [[Category:Pediatrics]] | ||
[[Category:Rare diseases]] | [[Category:Rare diseases]] | ||
{{Genetic-disorder-stub}} | {{Genetic-disorder-stub}} | ||
{{medicine-stub}} | {{medicine-stub}} | ||
Latest revision as of 04:39, 7 April 2025
Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
Founder, WikiMD Wellnesspedia &
W8MD medical weight loss NYC and sleep center NYC
| Hurler syndrome | |
|---|---|
_1.jpg)
| |
| Synonyms | Mucopolysaccharidosis type I (MPS I), Gargoylism |
| Pronounce | |
| Specialty | Medical genetics, Pediatrics |
| Symptoms | Developmental delay, coarse facial features, hepatosplenomegaly, corneal clouding, hearing loss |
| Complications | N/A |
| Onset | Infancy |
| Duration | Lifelong |
| Types | N/A |
| Causes | Genetic mutation in the IDUA gene |
| Risks | Autosomal recessive inheritance |
| Diagnosis | Genetic testing, urine test for glycosaminoglycans |
| Differential diagnosis | Hunter syndrome, Morquio syndrome, Sanfilippo syndrome |
| Prevention | N/A |
| Treatment | Enzyme replacement therapy, hematopoietic stem cell transplantation |
| Medication | N/A |
| Prognosis | Variable, often severe |
| Frequency | 1 in 100,000 births |
| Deaths | N/A |
Hurler syndrome (also known as Mucopolysaccharidosis type I, MPS I, or Hurler's disease) is a genetic disorder that results from the buildup of glycosaminoglycans (GAGs) due to a deficiency of the enzyme alpha-L-iduronidase. This enzyme deficiency leads to a range of symptoms and physical abnormalities.
Signs and Symptoms[edit]
Individuals with Hurler syndrome typically exhibit symptoms within the first year of life. Common signs and symptoms include:
- Developmental delay
- Coarse facial features
- Enlarged liver and spleen (Hepatosplenomegaly)
- Corneal clouding
- Joint stiffness
- Hearing loss
- Cardiac issues, such as valvular heart disease
Genetics[edit]
Hurler syndrome is inherited in an autosomal recessive manner. This means that an affected individual must inherit two copies of the defective gene, one from each parent. The gene responsible for Hurler syndrome is located on chromosome 4p16.3 and encodes the enzyme alpha-L-iduronidase.
Diagnosis[edit]
Diagnosis of Hurler syndrome is typically based on clinical presentation and confirmed through enzyme assay tests that measure the activity of alpha-L-iduronidase. Genetic testing can also identify mutations in the IDUA gene.
Treatment[edit]
There is no cure for Hurler syndrome, but treatments are available to manage symptoms and improve quality of life. These include:
- Enzyme replacement therapy (ERT) with laronidase
- Hematopoietic stem cell transplantation (HSCT)
- Symptomatic treatments, such as surgeries for heart and skeletal issues
Prognosis[edit]
The prognosis for individuals with Hurler syndrome varies. Without treatment, life expectancy is significantly reduced, often not extending beyond the first decade of life. With early intervention, particularly with HSCT, some individuals may live into adolescence or adulthood.
History[edit]
Hurler syndrome was first described by German pediatrician Gertrud Hurler in 1919. It is one of several types of Mucopolysaccharidosis disorders, which are collectively known as lysosomal storage diseases.
See Also[edit]
- Mucopolysaccharidosis
- Lysosomal storage disease
- Enzyme replacement therapy
- Hematopoietic stem cell transplantation
See also[edit]
- Mucopolysaccharidosis
- Lysosomal storage disease
- Enzyme replacement therapy
- Hematopoietic stem cell transplantation
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