Disease Directory Maroteaux-Lamy Syndrome
Metabolic

Maroteaux-Lamy Syndrome

Also known as: MPS VI, mucopolysaccharidosis type VI, ARSB deficiency, arylsulfatase B deficiency

Prevalence

1-9 per 100,000 (Orphanet)

Onset

Childhood

Type

Autosomal recessive genetic

Gene

ARSB

About Maroteaux-Lamy Syndrome

Maroteaux-Lamy syndrome (MPS VI) is caused by deficiency of arylsulfatase B (ARSB), resulting in accumulation of dermatan sulfate in lysosomes throughout the body. Unlike MPS I (Hurler), intelligence is generally preserved. The disease causes severe skeletal dysplasia, cardiac valve disease, corneal clouding, obstructive airway disease, and hepatosplenomegaly. Galsulfase (Naglazyme), the approved enzyme replacement therapy, significantly improves endurance and respiratory function.

Common Clinical Features

Skeletal dysplasia and short stature Cardiac valve disease Corneal clouding Joint stiffness Obstructive sleep apnea Hepatosplenomegaly Hearing loss

Clinical Trial Eligibility Tips

What to know before applying to Maroteaux-Lamy Syndrome trials.

Galsulfase (Naglazyme) ERT is standard — document infusion history, antibody status, and any infusion reactions

Urinary dermatan sulfate and ARSB enzyme activity are required biomarkers for eligibility documentation

Six-minute walk test and pulmonary function tests are standard outcome measures — baseline values are eligibility determinants

Cardiac valve assessment (echocardiogram) is required — severe cardiac disease may affect anesthesia eligibility for trial procedures

Patient Resources

Patient Organization

National MPS Society

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Natural History Registry

MPS Society Patient Registry

Join registry ↗

Orphanet

European reference resource for rare diseases (ORPHA:583)

View on Orphanet ↗

NORD

National Organization for Rare Disorders

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Find recruiting Maroteaux-Lamy Syndrome trials

Search 500,000+ studies from ClinicalTrials.gov, filtered for Maroteaux-Lamy Syndrome. Updated daily.

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