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Hurler Syndrome

What is Hurler Syndrome?

Mucopolysaccharidosis type 1 (MPS 1) is a progressive disorder that can affect multiple body systems. Individuals affected by MPS 1 are generally classified as having one of three syndromes: Hurler, Hurler-Scheie, or Scheie syndrome. Hurler syndrome is the most severe form and typically presents itself in an infant’s first year. Skeletal abnormalities such as short stature and thoracic-lumbar kyphosis (a curvature of the spine) are often observed. Coarsening of facial features (such as bulging frontal bones and enlarged lips) is typically noted after the first year. Progressive cognitive loss and hearing deterioration is also common.

 

Mucopolysaccharidosis type 1 (MPS 1) is a progressive disorder that can affect multiple body systems. Individuals affected by MPS 1 are generally classified as having one of three syndromes: Hurler, Hurler-Scheie, or Scheie syndrome. Hurler syndrome is the most severe form and typically presents itself in an infant’s first year. Skeletal abnormalities such as short stature and thoracic-lumbar kyphosis (a curvature of the spine) are often observed. Coarsening of facial features (such as bulging frontal bones and enlarged lips) is typically noted after the first year. Progressive cognitive loss and hearing deterioration is also common.

Acknowledgement of Hurler Syndrome has not been added yet.

The prevalence of Hurler syndrome is approximately 1 in 100,000 births. Hurler syndrome affects both males and females equally. This rare disorder is known to affect all ethnicities.

Synonyms for Hurler Syndrome has not been added yet.

Hurler syndrome is caused by autosomal recessive mutations on the IDUA gene on chromosome 4. The mutation leads to a severe deficiency in alpha-L-iduronidase (IUDA) enzyme. This shortage leads to an accumulation of glycosaminoglycan (GAG), specifically, dermatan sulfate and heparan sulfate in the lysosome (a structure found in cells). Dermatan sulfate is found mostly on skin, but can also be found on blood vessels, heart valves, tendons, and lungs; it maintains the shape of the skin and fibrosis. Heparan sulfate is found in cells; it is responsible for biological activities and developmental processes.

Musculoskeletal alterations are typically observed within the first year of life. This typically manifests as short stature of the thoracic-lumbar kyphosis (an excessive curvature of the spine). Coarsening of facial features (such as bulging frontal bones and enlarged lips) does not develop until after the first year of life. Intellectual disabilities typically become prevalent after the first year of life and  progresses over time. Cerebrospinal fluid (CSF) build-up in the brain, hydrocephalus, can also occur. This is the result of increased pressure and damage to the brain. Patients frequently develop ear, nose, and lung infections with thick mucosal secretions. Hearing and vision loss is common.  Dermatan sulfate and heparan sulfate or glycosaminoglycan (GAG) deposition in blood vessels can cause narrowing of arteries. The disease can also cause cardiorespiratory failure which can increase mortality.

Name Description
Facial Features Thick, coarse facial features with low nasal bridge.
Halted growth Halted growth
Claw hand Claw hand
Abnormal bones in the spine Abnormal bones in the spine
Cloudy corneas Cloudy corneas
Progressive mental retardation Progressive mental retardation
Deafness Deafness
Joint disease Joint disease

Hurler syndrome is often diagnosed based on an increase in urinary dermatan sulfate and heparan sulfate or glycosaminoglycan (GAG) levels. However, false-negative results are common. Prenatal diagnosis can be done via genetic testing and measurement of enzymatic activity in chorionic villus or amniocytes. Symptoms tend to develop during the first year of life. Characteristic physical features such as enlarged head, widely spaced and protruding eyes, and short and stiff neck, are most apparent in Hurler syndrome.

Diagnosis is based on the detection of increased excretion of heparan sulfate and dermatan sulfate in the urine. It is then confirmed via enzyme activity assays on cultured fibroblasts, leukocytes, plasma, and serum, to observe enzymatic deficiency. Genetic testing can confirm the presence of mutations on the IUDA gene.

The treatment process extends across multiple disciplines. Hematopoietic stem cell transplantation (HSCT), similar to a bone marrow transplant, is the optimal treatment for patients under 2.5 years old. This treatment can improve survival and maintain cognitive abilities. Hematopoietic stem cell transplantation (HSCT) is best when performed early in life, prior to developmental deterioration.

Enzyme replacement therapy (ERT) using the enzyme laronidase is recommended for all affected individuals . It is a life-long therapy that is used to treat non-neurological symptoms. ERT can delay or prevent certain features of Hurler syndrome.

Additional treatment strategies involve supportive care, such as surgeries. This may include hernia repairs, cardiac valve replacement, or spinal decompression.

Speech therapy or respiratory support (oxygen supplementation) may be required  based on symptoms. Hearing aids may be necessary to treat hearing loss. Medications may also be used to treat gastrointestinal (GI) issues.

Most affected individuals develop the disorder within 10 years, with a mean life expectancy of 5 years and a median life expectancy of 6.8 years. Enzyme replacement therapy (ERT) and hematopoietic stem cell transplantation (HSCT) can improve life expectancy. Successful bone marrow transplant shows improved survival rates. Affected individuals with bone marrow transplants have a median life expectancy of 8.7 years.

Providing a supportive and caring circle of friends and family greatly benefits the affected individual. Positive outlooks can help relieve frustration, devastation, and feeling of uncertainty experienced through living with Hurler syndrome. Genetic testing and counselling is recommended for at-risk families, to allow for more informed family planning.

Entire community mobilizes to support sisters with Hurler Syndrome Created by RareshareTeam
Last updated 29 Jul 2018, 08:09 PM

Posted by RareshareTeam
29 Jul 2018, 08:09 PM

Read Hannah and Cassidy's story in the Virginian-Pilot.  How have you leaned on your community for support?

Hi, Guys! I'm Sarah. Created by Leelismom2
Last updated 12 Apr 2016, 04:20 AM

Posted by marcusdad
12 Apr 2016, 04:20 AM

Hi Sarah, I was moved my your post, but sorry I can't answer the question about parents leaving their children. A lot has changed in treatment for Hurlers and things have gotten better. My son Marcus is 23 years old now and was 18 months old when he was diagnosed in 1994 and had a bone marrow transplant. Since then his quality of life has improved but he still has come challenges. He is learning to live on his own, trying to get a job and attend classes. Its a struggle but he is a happy person.

Posted by Leelismom2
11 Apr 2016, 11:38 PM

I'm here trying to find information on this because my parents are both carriers. My sister, younger, is a carrier, I had four brothers born afflicted, and I'm not a carrier. I was born in '85, my parent's first baby without Hurler's. They raised my brothers, Michael and Nicholas, but left the two other boys at the hospital. It seems as though the life expectancy has greatly improved, Michael was 6 when he passed away, and Nicholas wasn't yet 2. Was it common for parents to leave their children? My parents won't talk about any of it anymore. I'm sure it's a painful topic. I just wish I could understand more, I guess.

Length of life for these children Created by Fatemah
Last updated 10 Oct 2013, 08:19 AM

Posted by Nathansmom
10 Oct 2013, 08:19 AM

My son is 17 years old and was just diagnosed with Hurler Syndrome 6 weeks ago. He is devastated as are we, his family. He has had multiple health problems since birth and despite all the doctor visits no one knew he had Hurlers. He was seen by a geneticist in Albuquerque in August and finally given a diagnosis.

Posted by marcusdad
4 Feb 2010, 07:26 AM

Hello, I just discovered this site today. Just want to add our story. My son, Marcus, is 16 years old and is 15 years post BMT. He was diagnosed with Hurler's Syndrome back in 1994 when he was 16 months old. His website is www.caringbridge.org/visit/marcusespino. We have been through a lot over the years, but he is doing well, loves high school, texting and talking on his cell phone, hanging out with friends, going to football games, basketball games and the dances. He is a happy go lucky teenager we refer to him as our miracle child. He has had the double knee stapling, pins in both ankles, double hip surgery, both eyes corneal transplant, and most recently, open heart surgery to replace the aortic valve.

Posted by tlwalker72
23 Jan 2010, 01:51 AM

My son is 3 and a half and was diagnosed a little over 1 year ago with Hurler Syndrome. He has since had a stem cell transplant (9 mo ago) and is now making the enzyme on his own, but his body is still fighting the transplant (hemalytic anemia) You can follow his story @ www.caringbridge.org/visit/tylerwalker We pray everyday that he fully accepts the transplant until then we just take it one day at a time. Tyler vwasn't diagnosed until he was 2 and a half which is late, but at least he is now getting all the treatments to help him fight this. Please contact me if you want to share.

View Full Thread (9 more posts)
lalal8!!! Created by Fatemah
Last updated 9 Sep 2009, 02:47 AM

Posted by Fatemah
9 Sep 2009, 02:47 AM

Hi there, My daughter Fatemah was born July 24th 2009... our children are close in age and although we are currently in the NICU in London ON, we are from Windsor ON.... if you are looking for support let me know inshaAllah ok?

Ontario Canada? Created by Fatemah
Last updated 7 Sep 2009, 05:39 PM

Posted by Fatemah
7 Sep 2009, 05:39 PM

I was wondering if there was anyone on here who lives near us in London, Ontario (Canada)... I would love to meet up with other mothers if possible.... thankyou so much....

Community External News Link
Title Date Link
Hurler Syndrome: World record attempt aims to help local boy battle rare disease 08/21/2018
First US attempt to cure a rare disease with genome editing fails miserably 02/10/2019
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After these steps, the enrollment process is complete. All other questions are voluntary. However, these questions are important to patients and their families to create awareness as well as to researchers to study rare diseases. This is why we ask our participants to update their information annually or anytime changes to their information occur.

Researchers can contact CoRDS to determine if the registry contains participants with the rare disease they are researching. If the researcher determines there is a sufficient number of participants or data on the rare disease of interest within the registry, the researcher can apply for access. Upon approval from the CoRDS Scientific Advisory Board, CoRDS staff will reach out to participants on behalf of the researcher. It is then up to the participant to determine if they would like to join the study.

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Hi, Guys! I'm Sarah.

Created by Leelismom2 | Last updated 12 Apr 2016, 04:20 AM

Length of life for these children

Created by Fatemah | Last updated 10 Oct 2013, 08:19 AM

lalal8!!!

Created by Fatemah | Last updated 9 Sep 2009, 02:47 AM

Ontario Canada?

Created by Fatemah | Last updated 7 Sep 2009, 05:39 PM


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