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Lysosomal storage diseases

Maroteaux-Lamy syndrome (MPS VI)

An inherited storage disease. The body cannot break down some large sugar molecules. The skeleton, heart and airways are affected; intelligence is not affected.

Not part of the panel of Türkiye's National Newborn Screening Programme (heel-prick test). Source

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This page is translated from the Turkish original.

This disease is followed through the “Lysosomal storage diseases” group.

Understanding the disease

This section has not yet been reviewed by a physician. It summarises patient information from sources such as MedlinePlus, Orphanet and the NHS in plain language. The disease can differ from person to person; talk to your doctor about diagnosis and treatment.

What happens in this disease?

A change in the ARSB gene leaves the enzyme arylsulfatase B missing. This enzyme breaks down large sugar molecules called GAGs. GAGs build up in the cells. Tissues and organs grow larger and are damaged over time. Symptoms usually begin in early childhood.

Which symptoms can occur?

How fast the disease progresses varies from person to person.

  • Short stature and stiff joints
  • Coarse facial features and a large tongue
  • Numbness and weakness in the hand, called carpal tunnel (in many children)
  • Narrowing of the spinal canal in the neck
  • Heart valve problems
  • Pauses in breathing during sleep, frequent airway infections
  • Clouding of the clear front layer of the eye and hearing loss
  • A large liver and spleen, hernia

How is it diagnosed?

GAG levels in the urine may be found to be high. The diagnosis is confirmed when the enzyme arylsulfatase B is low in the blood. A genetic test for the ARSB gene can also be done.

Treatment and care

There is an approved enzyme replacement therapy for this disease. Depending on the symptoms, surgery may be needed: for carpal tunnel, the spine, a hernia, a heart valve or the tonsils. A corneal transplant and hearing aids may also be used. Care is led by a specialist team, and support for the family is important. The doctor who follows the disease decides which treatment is suitable.

For the family: inheritance and genetic counselling

The disease is passed on through recessive inheritance. The mother and father are usually healthy carriers. For a couple who are both carriers, the chance of having an affected child is 1 in 4 in each pregnancy. Diseases of this kind may be more common in marriages between relatives. Genetic counselling guides the family.

Source: MedlinePlus Genetics: Mucopolysaccharidosis type VI · NORD: Maroteaux Lamy Syndrome

Key facts

How common is it?
Prevalence: 1-9 per 1 000 000 (Europe)
How is it inherited?
Autosomal recessive
When does it usually start?
Adolescence, Childhood, Infancy, Newborn period

These facts are taken from Orphanet and MedlinePlus records (last checked: October 7, 2026). Frequency values are approximate ranges.

You are not alone: patient associations in Türkiye

Non-profit patient and family organizations in Türkiye working on this disease or disease group. Links are for information; Doktorclub is not affiliated with these organizations and does not endorse them.

For all rare diseases: Nadir Hastalıklar Federasyonu

Links checked on October 8, 2026.

Support and help

Doktorclub does not diagnose, recommend treatments or refer you to hospitals or doctors. These pages are meant to help you talk with your doctor.

News about Maroteaux-Lamy

Clinical trials (ClinicalTrials.gov)

A clinical trial is a regulated study that tests whether a new treatment is safe and whether it works, in patients who volunteer. Most trials look for a certain age, genetic change and health condition. Taking part is voluntary.

This list is not a treatment recommendation. Treatments tested in phase 1–3 trials are investigational (experimental): their efficacy and safety have not yet been proven and they are not approved treatments. Taking part depends on each trial’s criteria and a physician’s assessment; the first step is to talk to the doctor who manages your care.

Questions you can ask your doctor

  • Could this trial be suitable for us?
  • If we take part, how would current treatment and check-ups be affected?
  • Where does the trial take place, and how are travel and accommodation handled?
  • What happens if we want to leave the trial?

ClinicalTrials.gov lists 4 active interventional studies for this disease. 1 is recruiting now; none has a site in Türkiye. Last checked: October 7, 2026.

Selected records (studies with a site in Türkiye first):

See all studies on ClinicalTrials.gov · Joining clinical trials

Lysosomal storage diseases: other news

Medical codes (for talking with your doctor and finding sources)

These codes identify the disease in international classifications and databases. They can help when you talk with your doctor or look for reliable sources.

Orphanet code: ORPHA:583 · ICD-11 5C56.33

Codes checked against WHO ICD-11 and Orphanet on October 7, 2026.

This page provides general information and does not replace diagnosis or treatment. Talk to your doctor about symptoms, diagnosis and treatment.

The information on these pages is for general information only and does not replace medical advice. Talk to your doctor about diagnosis and treatment decisions. In an emergency in Türkiye, call 112.

Every update is based on an open source and labeled with its level of evidence. No advertising and no drug brand names. Our scientific principles

This page was translated from Turkish by the Doktorclub editorial team.