Mucopolysaccharidosis type II (MPS II), also known as Hunter syndrome, is a genetic condition that belongs to a group of lysosomal storage disorders called mucopolysaccharidosis. MPS II is caused by genetic changes in the iduronate-2-sulfatase (IDS) gene. IDS is involved in the breakdown of glycosaminoglycans (GAGs), a type of complex sugar in the body. In MPS II, the IDS enzyme does not work properly, leading to build up of GAGs in the body, which is toxic and causes damage to many organs and body systems.

There are two forms of MPS II:

• Severe form, which affects the nervous system (neuronopathic); symptoms usually present early in life (ORPHA:217085)
• Attenuated form, which does not affect the nervous system (non-neuronopathic) and has later onset (ORPHA:217093)

MPS II is a X-linked condition as the IDS gene is on the X chromosome and mostly affect males.

Below on this page is some information about this condition as well as links to useful resources for Australians living with a rare disease.

Synonyms: MPS 2, iduronate 2-sulfatase deficiency, I2S deficiency, IDS deficiency, Hunter syndrome, sulfoiduronate sulfatase deficiency, SIDS deficiency, mucopolysaccharidosis with skin involvement.

Universal rare disease classifications provide a common language for recording, reporting and monitoring diseases. Please visit the Rare Disease Classifications page for more information about these internationally recognised classifications.

ORPHA: 580 Mucopolysaccharidosis type 2

ICD-11: 5C56.31 Mucopolysaccharidosis type 2

Rare diseases typically display a high level of symptom complexity. There is often a wide range of symptoms and the symptoms may vary between individuals in terms of its presentation, severity, duration and impact.

Please speak to your medical team to learn more about the symptoms of this condition.

Rare diseases are often serious and progressive, exhibiting a high degree of symptom complexity, leading to significant disability. Majority of the estimated two million Australians living with a rare disease meet the Australian Government’s definition for disability (in accordance to the Australian Public Service Commission and Australian Bureau of Statistics), and many experience severe and permanent disability impacts. If you or someone you care for is experiencing disability-related impacts from a rare condition, please speak with a health or disability professional for advice. Information about relevant disability support can be found at the RARE Portal’s Disability Support Information page.

MPS II is a genetic condition caused by disease-causing genetic changes (variants) in the iduronate 2-sulfatase (IDS) gene on X chromosome (X-linked condition). These genetic variants can be inherited (passed on to the next generation). More information on X-linked inheritance pattern can be found at Centre for Genetics Education: X-linked inheritance.

If you would like to learn more about the inheritance and impact of this condition, please ask your doctor for a referral to a genetic counsellor. Genetic counsellors are qualified allied health professionals who can provide information and support regarding genetic conditions and testing. More information about genetic counselling can be found at:

• Information on Genetic Services
• The National and State Services pages underneath the ‘Genetic Counselling’ sections listed

A timely diagnosis is critical for better patient outcomes, the provision of the best possible care and treatment options, access to services and support, increased reproductive confidence and the ability to participate in clinical trials.

Please speak to your medical team to learn more about the available diagnostic pathways for this condition.

There is currently an approved treatment that is subsidised by the Life Saving Drugs Program (LSDP) for eligible patients with a confirmed diagnosis of MPS II. More information about eligibility requirements for this treatment can be found at Australian Government Department of Health, Disability and Ageing: Mucopolysaccharidosis type II (MPS II).

Please speak to your medical team to learn more about the possible treatment or management options for your condition. Treatment will depend on an individual’s specific condition and symptoms. It is also important to stay connected to your medical team so that you can be made aware of any upcoming clinical trial opportunities.

Clinical care for rare diseases often involves a multidisciplinary team of medical, care and support professionals. Please note that the information provided here is as a guide and that RVA does not necessarily monitor or endorse specific clinics or health experts.

Healthcare professionals involved in the treatment of MPS II may include general practitioners (GP), neurologists, cardiologists, orthopaedic surgeons, ophthalmologists, dermatologists, geneticists and others. The need for different healthcare professionals may change over a person’s lifetime and extend beyond those listed here.

Sydney Children’s Hospitals Network: Mucopolysaccharidoses Perioperative Management Practice Guideline; published in 2022.

The following guidance is available from international experts outside Australia, however there may be information that is not relevant or applicable to the Australian context, and may not be up to date:

Treatment of mucopolysaccharidosis type II (Hunter syndrome): a Delphi derived practice resource of the American College of Medical Genetics and Genomics (ACMG) – developed by the ACMG Therapeutics Committee and medical experts from United States of America and Canada.

Individuals living with rare diseases may have complex medical issues and disabilities, which are not always visible. It is often useful to refer to their medical history as well as personal information such as a medical card, doctor’s letter, or if available, a rare disease passport, for relevant information.

If you know of any relevant emergency management guidelines or information relevant to emergency care, please let us know via the  Contribute page.

There are specific considerations around participating in rare disease research, including clinical trials. It is important to be mindful of issues such as data privacy, research ethics, consent and differences in research regulations between Australia and other countries.

If you are interested in finding clinical trials for your condition, please visit the following websites; however, there may not be any clinical trials available:

• Australian Clinical Trials
• ClinicalTrials.gov

It is best to discuss your interest in any clinical trials with your medical team to determine suitability and eligibility.

Please note that RVA does not necessarily monitor or endorse each group/organisation’s operational governance and activities.

We are not aware of any rare disease organisations for MPS II in Australia. If you are aware of any Australian MPS II organisations, please let us know via the Contribute page. 

International Organisations:

National MPS Society (United States of America)
Website: https://mpssociety.org/

MPS Society UK (United Kingdom)
Website: https://mpssociety.org.uk/

Please note that RVA does not monitor or endorse each group/organisation’s operational governance and activities. When engaging with a group, please consider the information on the RARE Portal’s Finding Helpful Peer and Community Supports page.

MPS II varies between individuals, and each person’s experience is unique.

If you would like to share your personal story with RVA, please visit the Rare Voices Australia: Share Your Story page. RVA will consider your story for publishing on our website and inclusion on the RARE Portal.

For information on available government and social services that provide support for individuals with a rare disease, please visit the National and State Services pages.

People living with a rare disease, including families and carers, often face unique challenges such as diagnostic delays, misdiagnoses, limited treatment options, and limited access to rare disease specialists and support. These challenges may impact people’s emotional wellbeing and quality of life. Many people find it helpful to seek mental health and wellbeing support to cope with ongoing stress and uncertainty. Connecting with people who have shared experiences through a support group may also be helpful. Information about relevant mental health and wellbeing support can be found at:

• Mental Health and Wellbeing Support for Australians Living with a Rare Disease
• The National and State Services pages underneath the ‘Mental Health’ sections listed

Further information on MPS II can be found at:

• Raising Children Network: Mucopolysaccharidosis
• Genetic and Rare Diseases (GARD) Information Center: Mucopolysaccharidosis type 2
• National Organization for Rare Disorders (NORD): Mucopolysaccharidosis

GeneReviews^®: Mucopolysaccharidosis type II

Online Mendelian Inheritance in Man, OMIM^®: #309900 Mucopolysaccharidosis, type II; MPS2

Orphanet: Mucopolysaccharidosis type 2

Orphanet: Mucopolysaccharidosis type 2, severe form

Orphanet: Mucopolysaccharidosis type 2, attenuated form

This page has been developed by Rare Voices Australia (RVA)’s RARE Portal team. If you would like to see more information added to this page, please reach out via the Contact form. If you would like to share relevant resources for this condition, please visit the Contribute page.

If you are aware of any additional information that may benefit stakeholders with an interest in this page, or if you notice any broken links or inaccurate information, please let us know via the Contribute page.