Hurler, Hurler-Scheie and Scheie syndromes

This is part of Rare diseases.

Diagnosis: Hurler, Hurler-Scheie and Scheie syndromes

Synonyms: Mucopolysaccharidosis type I (IH, IH/S, IS); MPS I (IH, IH/S, IS), Alfa-L-iduronidase deficiency

Publication date: 2012-09-20
Version: 1.1

The disease

Hurler syndrome (MPS IH), Hurler-Scheie syndrome (MPS 1 H/S), and Scheie syndrome (MPS I S) are inherited conditions that belong to a group of disorders known as the mucopolysaccharidoses (MPS syndromes). These rare disorders are all caused by deficiencies in lysosomal enzymes, essential for breaking down different substances in the body. This leads to abnormal accumulation of the substance that would normally be degraded, resulting in tissue and organ damage. Hurler syndrome was described for the first time in 1919, by the German paediatrician Gertrud Hurler. Scheier syndrome was not described until 1962, by the American ophthalmologist Harold Glendon Scheie.

In total, there are seven known MPS syndromes. These are either named after the physician who first described them or after the deficient enzyme. They have also been labelled numerically. It is becoming increasingly common to use numeric labelling, such as MPS I, or a name that describes the deficient enzyme, such as alpha-L-iduronidase deficiency.

Hurler syndrome (MPS I H), Hurler-Scheie syndrome (MPS I H/S) and Scheie syndrome (MPS I S) are all variants of MPS I, resulting from one and the same enzyme deficiency. They are classified in accordance with the degree of symptom severity, Hurler syndrome being the most severe form and Scheie the mildest. Hurler-Scheie syndrome is the intermediate form. Deficiency of the enzyme alpha-L-iduronidase thus causes a spectrum of symptoms, depending on the underlying genetic anomaly (mutation).

The rare disease database of the Swedish Board of Health and Welfare has separate information on other MPS disorders: Hunter (MPS II), Sanfilippo (MPS III), Maroteaux- Morquio (MPS IV), Lamy (MPS VI), and Sly (MPS VII) syndromes.


Studies from several countries worldwide suggest that approximately 1 child per 100,000 is born with MPS I. This number is also valid in Sweden, meaning that approximately one baby per year is born with MPS I. There are currently around 10-15 people with the syndrome in Sweden (2012).

The Scheie variant of MPS I is even more uncommon. An English study suggests an incidence of 1 per 500,000 newborns. There are currently no known cases of Scheie syndrome in Sweden, but there are a few individuals with this form of MPS in Norway and Denmark. There may, however, be people in Sweden with the syndrome who have not been accurately diagnosed.


MPS I syndromes (Hurler, Hurler-Scheie and Scheie syndromes) are caused by a mutation in a gene that governs the production of (codes for) the enzyme alpha-L-iduronidase. This gene, known as IDUA, is located on the short arm of chromosome 4 (4p16.3). Several mutations in the IDUA gene have been shown to cause alpha-L idurinodase deficiency. Examples include W402X and Q70X. A person with two copies of either of these mutations will have Hurler syndrome, the most severe form of MPS I. The correlation between any of the other mutations and the severity of the disorder is not as clear.

Alpha-L-iduronidase is an enzyme that contributes to breaking down mucopolysaccharides (also known as glycosaminoglycans). These saccharides, with their long carbohydrate chains, are components of various tissues. Breakdown of the mucopolysaccharides normally takes place in the cell lysosomes, small units found in all cells except red blood cells. Lysosomes contain enzymes, proteins that contribute to chemical reactions without themselves undergoing any permanent change, and whose function is to digest and break down various substances. Hurler, Hurler-Scheie and Scheie syndromes are characterized by alpha-L-iduronidase deficiency, which results in the build-up of undigested mucopolysaccharides in the cells. These aggregations damage various tissues and organs.


The inheritance pattern of all the three forms of MPS I is autosomal recessive. This means that both parents are healthy carriers of a mutated gene. When two healthy carriers have a child, there is a 25 per cent risk that the child will inherit the mutated genes (one from each parent), in which case he or she will have the disease. In 50 per cent of cases the child inherits only one mutated gene (from one parent only) and, like both parents, will be a healthy carrier of the mutated gene. In 25 per cent of cases the child will not have the disease and will not be a carrier of the mutated gene.

Figure: Autosomal recessive inheritance

A person with an inherited autosomal recessive disease has two mutated genes. If this person has a child with a person who is not a carrier of the mutated gene, all the children will inherit the mutated gene but they will not have the disorder. If a person with an inherited autosomal recessive disease has children with a healthy carrier of the mutated gene (who has one mutated gene) there is a 50 per cent risk of the child having the disorder, and a 50 per cent risk of the child being a healthy carrier of the mutated gene.


Hurler syndrome, the most severe form of MPS I, affects the brain, heart, joints, skeleton respiratory tract and liver, as well as vision and hearing. Newborns with the syndrome appear healthy and develop normally until they are between 6 months and two years old, when organ damage is first detected. The disorder causes cognitive impairment, and left untreated it leads to premature death.

Mucopolysaccharide depositions in the meninges (the membranes that cover the brain and spinal cord) prevent normal drainage of cerebrospinal fluid, thereby leading to the development of hydrocephalus.

The abdomen protrudes owing to enlarged liver and spleen, and inguinal (groin) or umbilical hernias are common. Inguinal hernias are common, even in the first few months of life. They are a consequence of weakened connective tissue.

Skeletal anomalies include abnormal curvature of the lower spine, resulting in a hunchbacked appearance, and restricted growth, resulting in pronounced short stature, although this will only be evident after a few years.

Thickened cranial bones increase the circumference of the head, and as the cranial sutures close prematurely, the result may be an abnormal head shape. The rib cage becomes stiff and tense. The hip joints are often underdeveloped, resulting in an unsteady gait.

Characteristic facial features develop over time, including a flattened bridge of the nose, broad lips, prominent eyebrows, protruding eyes, enlarged tongue and thick hair. The neck is markedly short. The teeth have delicate enamel and are widely spaced. The gums are thickened and bleed easily. The hands are short and wide. The joints of these children are stiff, and the fingers may become crooked. Carpal tunnel syndrome is common in all MPS syndromes and results from abnormal thickening of connective tissue in the wrist, putting pressure on a nerve. Children with an MPS syndrome and carpal tunnel syndrome have numbness and impaired finger mobility, but they rarely find this painful.

Mucopolysaccharide accumulations may also cause cloudy corneas, impairing vision. Sometimes this clouding is present in newborns. Impaired hearing may be caused by auditory nerve damage, or by fluids collecting behind the eardrum as a consequence of recurrent ear infections.

Over time, the heart may be affected by aggregated mucopolysaccharides, causing symptoms from the coronary arteries or the heart valves. The heart muscle may also become enlarged and weakened (cardiomyopathy).

Most children with Hurler syndrome have recurrent upper respiratory tract infections and breathing problems, even during the first year of life. They may also have a constantly runny nose with thick mucus, even when free from infection. Some have enlarged tonsils. Snore-like breathing and brief breathing pauses may occur during sleep (sleep apnoea).

In infancy many of these children have gastrointestinal problems, including diarrhoea and constipation.

Without treatment the life expectancy of these children is severely shortened, primarily as a consequence of heart and lung problems, but it is important to know that there is considerable individual variation.

In Hurler-Scheie syndrome the symptoms are less severe than in Hurler syndrome. In most cases symptoms do not manifest until between the ages of three and four. Cognitive development is not affected to the same extent as in Hurler syndrome. Growth is also less affected. Although there is considerable variation, these children will always be shorter than would normally be expected.

Many have a small lower jaw (micrognathia), which may result in dental problems and increases the risk of complications in association with anaesthesia. Because the airways are constricted, all children with MPS I have a risk of complications in association with anaesthesia. They should therefore be examined by an anaesthetist before planned surgery.

Mucopolysaccharide accumulations gradually aggravate symptoms from the heart, lungs, liver, skeleton and joints. Chronic gastrointestinal problems including diarrhoea and constipation may also become worse. The age of onset and symptom severity may vary widely among individuals.

Impaired vision as a consequence of corneal cloudiness is common, as is hearing loss. Complications such as hydrocephalus are rare, but there is a risk that the vertebral column will be compressed by thickened surrounding membranes (meninges), which may result in arm or leg paralysis.

Most people with Hurler/Scheie syndrome live longer than those with Hurler syndrome, but there is considerable individual variation.

Scheie syndrome is the mildest form of MPS I. Like the other variants it is characterised by symptoms from the heart, lungs, joints, skeleton, and eyes. Even if Scheie syndrome is the mildest of the MPS I disorders, it is still a chronic condition that has a major impact on the quality of life. Cognitive development and life expectancy are both normal, but growth delay and short stature are associated with the syndrome. Onset rarely occurs before the age of five, and the condition is usually not diagnosed until between the ages of 10 and 20.

Heart symptoms are caused by mucopolysaccharide deposits in the heart valves, resulting in obstructions. The condition primarily affects the aortic valves. As in other MPS syndromes the upper respiratory tract is affected, resulting in asthmatic problems, recurrent infections of the upper respiratory tract, and brief breathing pauses during sleep (sleep apnoea).

Facial features are less characteristic that in the other MPS I syndromes, but the chin is often notably small.

The joints are stiff and mobility restricted, which may result in severe pain. Carpal tunnel syndrome is common.

Hip and spine problems are common. The majority also have spondylolisthesis, a condition in which the vertebrae slip from their normal position, causing back and leg pain. The slipped vertebrae may also pinch the spinal cord, which can result in paralysis of the legs and urinary tract symptoms such as loss of bladder control. Mucopolysaccharides accumulating in the spinal column, particularly in the vertebral column, thicken the surrounding membranes and may cause nerve pressure and subsequent paralysis of the arms or legs.

Both glaucoma and cataracts may occur as a result of aggregated mucopolysaccharides. There may also be retinal damage, resulting in significant vision loss. Although hearing impairment may occur, it is less common than in other MPS I syndromes.


The MPS syndromes are traced by testing urine for elevated levels of glycosaminoglycans (mucopolysaccharides). The diagnosis MPS I is established when the blood level of the enzyme alpha-L-idunorase is abnormally low, while heparan sulfate and dermatan sulfate concentrations are elevated.

There are no biochemical markers that distinguish the three forms of MPS I, so it is clinical presentation that determines the specific diagnosis. If liver, skeletal, or brain symptoms manifest during the first two years of life, Hurler syndrome is the most likely form. The presence of W402X and Q70X mutations strengthens this diagnosis. It is hoped that in the future it will be possible to link specific molecular genetic anomalies with clinical manifestations, thereby enabling reliable prognosis in each individual case.

DNA-based diagnostics is possible in all forms of the syndrome.

At the time of diagnosis, the family should be offered genetic counselling. Carrier diagnostics, prenatal diagnostics and preimplantation genetic diagnostics (PGD) in association with IVF are possible if the mutation in the family has been identified.


Current treatment options have radically improved the situation for individuals diagnosed with MPS I, although there is still no complete cure. Interventions aim to counteract complications, and to ensure the best possible quality of life. Haematopoietic stem cell transplantation (transplantation of blood stem cells) has now been used to treat Hurler syndrome for several years, and experience to date has been positive. The risks associated with this intervention have also decreased. However, treatment results are often insufficient, particularly for skeletal symptoms. Enzyme replacement therapy, in which the deficient enzyme is administered directly into the bloodstream, has been available for a few years and is preferably used for the milder forms of MPS I. This treatment reduces the accumulation of mucopolysaccharides in all organs except the brain. Optimal choice of treatment requires specialist competence. Children who have undergone haematopoietic stem cell transplantation or enzyme replacement therapy should be regularly monitored by specialists in the MPS syndromes, both to evaluate treatment results and to prevent complications.

Haematopoietic stem cell transplantation

All blood cells are produced from blood stem cells (hematopoietic stem cells) in the bone marrow. Blood-forming stem cells can develop into red blood cells (erythrocytes), different kinds of white blood cells including lymphocytes and blood platelets (thrombocytes). A stem cell transplantation provides the opportunity to replace a sick person’s bone marrow with that of a healthy person. To optimise the chances of successful transplantation, the recipient of the marrow should be as free from infection as possible and in good physical condition. For this reason, it is important to carry out the transplantation at an early stage. The intervention itself is fairly simple, but the preparations, aftercare and major risks make it a highly demanding procedure.

In order to carry out a stem cell transplant, a donor must be found whose tissue type (HLA antigen) matches that of the recipient. Tissue type is inherited from both parents, and each child has a 25 per cent chance of having the same tissue type as a sick sibling. The best solution is to transplant bone marrow from a healthy sibling with the same tissue type. If this is not possible a suitable donor may be located in national and international bone marrow donor registries or in stored, frozen blood from umbilical cords. The “Tobias Registry” in Sweden contains approximately 40,000 registered voluntary donors, and the names of more than 19 million other donors can be found in registers outside Sweden.

Preparatory measures are needed to help the new stem cells engraft and minimise the risk of diseased cells attacking the new donor cells. The recipient of the transplanted cells is treated with chemotherapy. This treatment is not without problems as chemotherapy also impairs the barrier function of the mucous membranes. There is a major risk of developing serious infection and for this reason the child needs to be kept in isolation for a period of weeks, or sometimes months, prior to and after the transplantation.

In a blood stem cell transplant bone marrow is removed from the hip bone of the donor by suction, after which it is collected in a container. An alternative to taking bone marrow from the hip bone is to pass donor blood through a special centrifuge which filters out stem cells, while the rest of the blood is returned to the donor. A third alternative is to use the blood found in the umbilical cords of newborns. The blood of newborns has very high levels of blood stem cells and the small amount of blood remaining in the umbilical cord of a healthy newborn can be frozen and saved for later transplantations.

Regardless of their source, the transplanted blood stem cells find their way into the bone cavities of the recipient.

Haematopoietic stem cell tranplantations have now been carried out in Hurler syndrome patients for approximately 25 years, and in total more than 400 children worldwide have undergone this procedure.

Several long-term follow-up studies have concluded that if stem cell transplantation is to prevent cognitive impairment in children with Hurler syndrome it must be carried out at an early stage. As prevention of intellectual disability is considered the primary benefit of transplantation in Hurler syndrome, the current recommendation is to carry out the procedure before the age of two and a half, but preferably during the first year of life, i.e. as soon as the diagnosis has been established.

Children whose cognitive skills are within the normal range at the time of transplantation have the greatest benefit, since this intervention prevents further deterioration. One month after the transplantation the enzyme levels in the recipient’s bloodstream start rising to normal, the excretion of mucopolysaccharides in the urine subsides, and the harmful accumulations in the cells decrease. As a consequence, the thickening of the meninges also subsides, thereby preventing the development of hydrocephalus.

Haematopoietic stem cell transplantation also improves vision, as well as joint, heart, and lung functions. The characteristic facial features are almost completely normalised. However, the intervention has no effect on skeletal abnormalities, and orthopaedic surgery of, for example, the vertebral column and the hips, will have to be performed when the child is older. To some extent growth also seems to increase. The medical literature does not support the use of growth hormone as an effective way of increasing height, but no systematic studies have as yet been carried out. As stem cell transplantation is a complicated procedure with a risk of serious or even fatal complications, the child needs to be thoroughly examined before this intervention is recommended. Parents should be well informed about the risks and findings from follow-up studies of children who have undergone stem cell transplantation.

Enzyme replacement therapy is now available, as the deficient enzyme can be produced and has been approved for medical use since 2003. The enzyme is administered via intravenous infusion once weekly. Treatment is long-term, most likely lifelong. The treatment has proven effective for improving stiff joints, lung function, and for and improving general health. However, enzyme replacement therapy is not expected to reduce the effects of the disorder on the eyes and heart valves. Nor is there any evidence that the accumulation of MPS substance in the brain is prevented or decreases, as the enzyme cannot cross the blood-brain barrier. Studies are ongoing to determine if accumulations in the spinal column can be prevented by administering the medication directly into the spinal fluid. Further studies and longer follow-up are required for evaluating the treatment efficacy of administering the enzyme directly into the bloodstream or spinal fluid.

Because the airways are narrowed, all individuals with mucopolysaccharide syndromes have a risk of complications in association with anaesthesia. In Scheie syndrome the small chin is also a potential risk. Patients with MPS syndromes should therefore be examined by an experienced anaesthetist before planned surgery.

In the severe form, Hurler syndrome, stem cell transplantation is the treatment of choice, providing there is a suitable donor and the child does not have severe, irreversible symptoms. Enzyme replacement therapy is recommended when the diagnosis is established, in wait for transplantation. After the transplantation, enzyme replacement therapy is given until the new stem cells produce sufficient enzyme.

In Hurler-Scheie and Scheie syndromes, enzyme replacement therapy is the treatment of choice, but there are also other treatments aiming to relieve symptoms and prevent complications. All decisions concerning enzyme replacement therapy should be made by specialists in these rare disorders.

Children who undergo haematopoietic stem cell transplantation have a normal life expectancy. In order to prevent skeletal, heart, vision, hearing, and nervous system complications these children should be regularly examined by medical specialists, preferably at medical collaboration meetings. These routines should also be followed if the child is on enzyme replacement therapy, as experience of this treatment has not yet been adequately studied and long-term follow-up is needed to evaluate its efficacy.

Hydrocephalus is a potential complication in all MPS I forms, which is treated by surgically inserting a shunt to divert excess fluid from the brain via a tube to the abdomen. Neither stem cell transplantation nor enzyme replacement therapy excludes the risk of developing hydrocephalus.

In all the forms of MPS I, Hurler, Hurler-Scheie and Scheie syndromes, recurring upper respiratory tract infections are common and may be a major problem. Enlarged tonsils or nasal polyps may prevent proper breathing during sleep and sometimes need to be removed surgically. Breathing problems that occur during the night can be assessed by registering oxygen saturation in the blood (pulse oximetry), and sometimes require treatment. Continuous positive airway pressure (CPAP) is a breathing mask connected with a compressor that presses air through the nose and keeps the airways open, and may facilitate breathing during sleep.

Obstructed heart valves can be treated by valve replacement surgery.

As visual impairment is common, eye examinations should be carried out regularly. In some cases visual rehabilitation and visual aids may be needed. Corneal transplant can be used to treat vision problems resulting from corneal clouding.

Carpal tunnel syndrome should be diagnosed early and treated by a hand surgeon, before nerve damage becomes permanent. Electrophysiological examination of nerve conduction in the fingers will reveal nerve damage.

Gastrointestinal problems are treated through dietary therapy, and a dietician can provide advice on dietary changes. Sometimes a lactose-free diet is beneficial for relieving diarrhoea. Constipation can also be treated medically.

In Scheie syndrome, surgery can help stabilize the affected vertebrae so that they do not slip, thereby preventing neurological complications. Regular MRI scans of the cervical spine are recommended to reveal the risk of vertebral luxation (dislocation). Decompression of the vertebral bodies may also be required to prevent neurological complications. All interventions must be based on individual needs and planned in cooperation with specialists in the MPS syndromes.

As most organs are affected in all three MPS I forms it is important to monitor all potential complications, at least on a yearly basis after the diagnosis is confirmed. These examinations should include neurological assessment, and evaluation of the eyes, hearing, heart, lungs, skeleton, and teeth. Sometimes X-rays or other supplementary methods are needed to perform these exams.


The child and family require early contact with a habilitation team made up of professionals with special expertise in how disability affects everyday life, health and development.

Support and treatment take place within the medical, educational, psychological, social and technical fields. Habilitation may include assessments, treatment, assistance with choice of aids, information about disabilities and counselling. It may also include information about support offered by the local authority as well as advice on the way accommodation and other environments can be adapted to the child’s needs. Parents and siblings can also receive support. The family may also need help coordinating interventions.

Habilitation is planned on the basis of the child’s special needs and problems. Habilitation varies over time but always takes place in collaboration with those close to the child or young person.

Contractures are caused by ligaments and tendons that are thickened and stiff as a result of MPS accumulations. They cannot be corrected by physical therapy, and tend to recur after orthopaedic surgery, which is therefore not recommended. A physical therapist may, however, provide exercises and give advice on activities that retain joint mobility as far as possible. The child may also benefit from orthopaedic foot supports and hand braces (orfthoses). Children who have undergone stem cell transplantation usually do not have severe contractures.

Children with Hurler or Hurler-Scheie syndromes may greatly benefit from speech, language and communication training, as well as other interventions that aim to optimise the child’s capacities and ensure the best possible quality of life. This is important for all children with the syndrome, but particularly after stem cell transplantation in Hurler syndrome.

When the disorder affects the brain in children who for various reasons cannot undergo stem cell transplantation or enzyme therapy, or when treatment results are poor, interventions must be implemented before the child shows signs of weakened cognitive skills. It is important to experiment and collaborate with the child and family in finding things to do that are inspiring and fun for everyone involved. For example, favourite stories and music can be saved, as can recordings of the child’s own voice, to give the child pleasure as the disease progresses.

Psychological support adapted to age and maturity should be available continuously while the child is growing up. Even small children need their questions answered.

The local authority can offer different forms of support to facilitate the family’s everyday life. Respite care can, for example, take the form of a contact family or short-term accommodation outside the home. Special assistance can help the family lead an active life despite the child’s disabilities.

Individuals in their late teens and adults require continued regular medical monitoring and individually designed habilitation. This usually takes place at the adult rehabilitation services and/or a neurology clinic.

Habilitation should be provided for children or teenagers diagnosed with Scheie syndrome, while interventions for adults should be offered at a neurology clinic or a medical rehabilitation clinic.

Practical advice


National and regional resources in Sweden

Paediatricians and paediatric neurologists at Swedish regional and county hospitals can make the diagnosis with the help of laboratory tests.

Two laboratories specialising in metabolic diseases have resources to make clinical chemical diagnoses. The Department of Clinical Chemistry and Neurochemistry, Sahlgrenska University Hospital/Mölndal, SE-431 80 Mölndal, and the Centre for Congenital Metabolic Diseases, Karolinska University Hospital, Solna, SE-171 76 Stockholm, Sweden.

DNA-based diagnostics is carried out at the Department of Clinical Genetics, Rudbeck Laboratory, Uppsala University Hospital, SE-751 85 Uppsala, Sweden and the Centre for Congenital Metabolic Diseases, Karolinska University Hospital, Solna, SE-171 76 Stockholm, Sweden.

Resource personnel

The following Swedish hospitals have specialist teams with knowledge of and interest in MPS disorders:

Astrid Lindgren Children’s Hospital, Karolinska University Hospital, Huddinge, SE-141 86 Stockholm: Assistant senior physician Karin Naess, tel: +46 8 585 800 00.

Skåne University Hospital, SE-221 85 Lund: Specialist Physician Domniki Papadopoulou, Children’s Hospital, tel: +46 46 17 10 00.

Sahlgrenska University Hospital in Gothenburg: Professor Paul Uvebrant and Associate Professor Niklas Darin, Queen Silvia Children’s Hospital, SE-416 85 Gothenburg, tel: +46 31343 40 00 and Professor Jan-Erik Månsson, Clinical Chemistry and Neurochemistry, Sahlgrenska University Hospital /Mölndal, SE-431 80 Mölndal, tel: +46 31 343 10 00.

Uppsala University Hospital, SE-751 85 Uppsala, Professor Niklas Dahl, Clinical Genetics, Rudbeck Laboratory, tel: +46 18 611 10 00.

Courses, exchanges of experience, recreation

Ågrenska is a national competence centre for rare diseases and its families’ programme arranges stays for children and young people with rare diseases and their families. Ågrenska is open to families from the whole of Sweden and focuses particularly on the needs of children and young people with rare diseases. Every year a number of adults with rare diseases also visits Ågrenska. Information is available from Ågrenska, Box 2058, SE-436 02 Hovås, Sweden. Tel: +46 31750 91 00, fax: +46 31 91 19 79, email: agrenska@agrenska.se, www.agrenska.se.

The section for rare diseases of the Stockholm County Council Habilitation Services arranges training days on MPS diseases for parents and personnel. Contact Kristina Gustafsson Bonnier, tel: +46 8 123 350 23, email: kristina.gustafsson-bonnier@sll.se, www.habilitering.nu/forumfunktionshinder.

Frambu, The Norwegian Resource Centre for Rare Disorders, arranges annual family stays for children and young people with Hurler/Hunter syndromes and their parents. Swedish families are also invited to participate, but there is currently no agreement between Norway and Sweden that regulates economic compensation for the stay and travel expenses. Information is available from Frambu, The Norwegian Resource Centre for Rare Disorders, Sandbakkveien 18, NO-1404 Siggerud, Norway. Tel: +47 64 85 60 00, fax: +47 64 85 60 99. Email: info@frambu.no, www.frambu.no.

Organizations for the disabled/patient associations

The Swedish MPS association, email: mps.foreningen@gmail.com, www.mpsforeningen.se

Rare Diseases Sweden, Box 1386, SE-172 27 Sundbyberg, Sweden. Tel: +46 8 764 49 99, email: info@sallsyntadiagnoser.se, www.sallsyntadiagnoser.se.
Rare Diseases Sweden is a national association representing people with rare diseases and varying disabilities.

FUB, The Swedish National Association for Children, Young People and Adults with Intellectual Disabilities. Industrivägen 7 (visitors address), Box 1181, SE-171 23 Solna, Sweden. Tel: +46 8 508 866 00, fax: +46 8 508 866 66, e-post fub@fub.se, www.fub.se

The UK Society for Mucopolysaccharide Diseases, email: mps@mpssociety.co.uk, www.mpssociety.co.uk.

The American National MPS Society, email: info@mpssociety.org, www.mpssociety.org.

Courses, exchanges of experience for personnel

During the Ågrenska Family Program weeks, training days are organized for personnel working with the children who are participating. Information is available from Ågrenska, Box 2058, SE-436 02 Hovås, Sweden. Tel: +46 31750 91 00, fax: +46 31 91 19 79, email: agrenska@agrenska.se, www.agrenska.se.

The section for rare diseases of the Stockholm County Council Habilitation Services arranges training days on MPS diseases for parents and personnel. Contact Kristina Gustafsson Bonnier, tel: +46 8 123 350 23, email: kristina.gustafsson-bonnier@sll.se, www.habilitering.nu/forumfunktionshinder.

Research and development (R&D)

Intensive research on the MPS syndromes is ongoing around the world. One of the major challenges is to find ways of modifying the deficient enzyme so that it can reach the brain and the spinal column. Another is to be able to treat the skeletal anomalies associated with the syndrome. Animal models are used to investigate different treatment possibilities.

Screening methods are evaluated with the aim of facilitating early diagnosis and prompt treatment as well as providing genetic information.

Studies that aim to map gene abnormalities associated with the mucopolysaccharides are ongoing internationally. It is hoped that in the future it will be possible to relate specific genetic molecular changes to symptoms, thereby facilitating more accurate prognoses in individual cases.

In England and the US in 1998-1999, gene replacement therapy was attempted in isolated cases of Hurler syndrome. Problems with antigen-antibody reactions and finding suitable viral vectors (that act as vehicles for transporting genetic material into cells) have prevented this type of therapy from becoming more widely used. In gene replacement therapy the defective gene in the haematopoietic stem cells is replaced with a healthy gene. The stem cells with the new gene are then able to produce the deficient enzyme. Animal models suggest that gene replacement therapy will most likely be a viable treatment option in the future.

Information material

An information leaflet on Hurler, Hurler-Scheie, and Scheie syndromes summarising the information in this database text is available free of charge from the customer service department of the Swedish National Board of Health and Welfare (in Swedish only, article number 2011-11-32.) Address: SE-120 88 Stockholm, Sweden. Tel: +46 75 247 38 80, fax: +46 35 19 75 29, email: publikationsservice@socialstyrelsen.se. Postage will be charged for bulk orders.

The Swedish MPS Association has produced a brochure on Hurler syndrome (2007, in Swedish only). It can be ordered from the association, email: mps.foreningen@gmail.com, www.mpsforeningen.se, or downloaded in pdf format from its home page, www.mpsforeningen.se/documents/Hurlerbroshyren.pdf.

Newsletter from Ågrenska on mucopolysaccharidoses, number 224 (2003). Newsletters are edited summaries of lectures delivered at family and adult visits to Ågrenska. They may be ordered from Ågrenska, Box 2058, SE-436 02 Hovås, Sweden. Tel: +46 31 750 91 00, fax: +46 31 91 19 79, email: agrenska@agrenska.se. They are also available at www.agrenska.se.

Information in English on the different MPS diseases/syndromes is produced by the UK Society for Mucopolysaccharide Diseases, and the American National MPS Society (see under “Organizations for the disabled/patient associations”).


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van der Linden M, Kruyt M, Sakkers R, de Koning TJ, Oner FC, Castelein RM. Orthopaedic management of Hurler’s disease after hematopoietic stem cell transplantation: a systematic review. J Inherit Metab Dis 2011; 34: 657-669.

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Database references

OMIM (Online Mendelian Inheritance in Man)
Search: mucopolysaccharidosis type IH, mucopolysaccharidosis type IH/S, mucopolysaccharidosis type IS

GeneReviews (University of Washington)
www.genetests.org (find GeneReviews, then Titles)
Search: mucopolysaccharidosis type I

Document information

The Swedish Information Centre for Rare Diseases produced and edited this information material.

The medical expert who wrote the draft of this information material is Associate Professor Gunilla Malm, Karolinska University Hospital, Huddinge/Stockholm, Sweden.

The relevant organisations for the disabled/patient associations have been given the opportunity to comment on the content of the text.

An expert group on rare diseases, affiliated with the University of Gothenburg, approved the material prior to publication.

Publication date: 2012-09-20
Version: 1.1
Publication date of the Swedish version: 2012-02-27

For enquiries contact The Swedish Information Centre for Rare Diseases, The Sahlgrenska Academy at the University of Gothenburg, Box 400, SE-405 30 Gothenburg, Sweden. Tel: +46 31 786 55 90, email: ovanligadiagnoser@gu.se.


About the database

This knowledge database provides information on rare diseases and conditions. The information is not intended to be a substitute for professional medical care, nor is it intended to be used as a basis for diagnosis or treatment.