What is the difference between hurler and Hunter syndrome?
What is the difference between hurler and Hunter syndrome?
Hunter syndrome (mucopolysaccharidosis II, MPS II) is distinguished from Hurler syndrome by an X-linked recessive inheritance, longer survival, lack of corneal clouding, the characteristic papulonodules, and the different biochemical defect.
What causes Hurler disease?
Hurler syndrome is caused by a variation in the IDUA gene, which contains the instructions for the production of a specific enzyme known as alpha-L-iduronidase. This specialized protein is normally found in the lysosomes of cells, where it helps to break down complex sugars called glycosaminoglycans (GAGs).
What are the different classes of Mucopolysaccharide?
Mucopolysaccharides
- MPS I (Hurler syndrome; Hurler-Scheie syndrome; Scheie syndrome)
- MPS II (Hunter syndrome)
- MPS III (Sanfilippo syndrome)
- MPS IV (Morquio syndrome)
What is the treatment for Hurler syndrome?
Management and treatment Enzyme replacement therapy (ERT) with laronidase is recommended for all Hurler patients and is a lifelong therapy which alleviates non neurological symptoms. The early use of ERT has been shown to delay or even prevent the development of some of the clinical features of this condition.
How common is Hurler syndrome?
The incidence of Hurler syndrome is approximately 1 in 100,000 births. [1] Male and female children are equally affected. All races and ethnicities are at risk of inheriting the disease.
What is Mucopolisacaridosis?
Mucopolysaccharidosis refers to a group of inherited conditions in which the body is unable to properly breakdown mucopolysaccharides (long chains of sugar molecules that are found throughout the body).
Is hyaluronic acid a Mucopolysaccharide?
On this basis, six distinct mucopolysaccharides have been established: hyaluronic acid, chondroitin, the chondroitin sulfates designated as A, B and C, and keratosulfate.
Can Hurler syndrome be prevented?
Hurler syndrome (HS) is a severe inborn error of metabolism causing progressive multi-system morbidity and death in early childhood. At present, stem cell transplantation (SCT) is the only available treatment that can prevent central nervous system disease progression in HS patients.
Is Hurler syndrome curable?
There is no cure for MPS I, and it is difficult to manage (treat). A team approach often is used that includes medical therapy with laronidase (Aldurazyme) and possibly surgery to help reduce some of the symptoms of this inherited disease.
How is Hurler syndrome treated?
What is mucopolysaccharidosis type I?
Mucopolysaccharidosis type I (MPS I) is a condition that affects many parts of the body. This disorder was once divided into three separate syndromes: Hurler syndrome (MPS I-H), Hurler-Scheie syndrome (MPS I-H/S), and Scheie syndrome (MPS I-S), listed from most to least severe.
What are the different types of Hurler syndrome?
This disorder was once divided into three separate syndromes: Hurler syndrome (MPS I-H), Hurler-Scheie syndrome (MPS I-H/S), and Scheie syndrome (MPS I-S), listed from most to least severe. Because there is so much overlap between each of these three syndromes, MPS I is currently divided into the severe and attenuated types.
What is the prognosis of mucopolysaccharidosis (MPS)?
Although each mucopolysaccharidosis (MPS) differs clinically, most patients generally experience a period of normal development followed by a decline in physical and/or mental function. (Note: MPS-V and MPS-VIII are no longer in use as designations for any disease.)
Is there a global registry for monitoring patients with mucopolysaccharidosis type I?
The MPS I registry: design, methodology, and early findings of a global disease registry for monitoring patients with Mucopolysaccharidosis Type I. Mol Genet Metab. 2007 May;91 (1):37-47. Epub 2007 Mar 2. Citation on PubMed
