Information for healthcare professionals
This section of hurlersyndrome.org is designed for healthcare professionals who care for children, young people and adults with Hurler syndrome (severe MPS I, MPS I-H). It brings together practical, evidence informed information on recognition, diagnosis, referral, acute management and long term follow up, alongside links to detailed pages on symptoms, treatments and research.
The content is intended to complement, not replace, national and local guidelines. Clinical decisions should always be made in line with your centre’s protocols and in partnership with a recognised metabolic or transplant team.
Intended audience: paediatricians, neonatologists, metabolic physicians, geneticists, anaesthetists, intensivists, cardiologists, orthopaedic and ENT surgeons, primary care clinicians and allied health professionals.
When to suspect Hurler syndrome
Early recognition and timely referral change outcomes. Hurler syndrome should be considered whenever there is an evolving combination of developmental concerns and multisystem features consistent with a lysosomal storage disorder.
Red flag features (illustrative, not exhaustive):
- Coarse facial features and enlarging head circumference over time
- Recurrent ear, nose and throat problems, noisy breathing, sleep disordered breathing
- Hepatosplenomegaly, abdominal protuberance
- Skeletal changes suggestive of dysostosis multiplex (kyphosis, gibbus, joint contractures, clawed hands)
- Developmental delay or loss of skills, language or social regression
- Recurrent respiratory infections, difficult airways, problematic intubations
- Family history of MPS I or unexplained early childhood deaths
Early referral can improve outcomes
If you suspect Hurler syndrome in a child, especially under 2 to 3 years of age, seek urgent advice from a specialist inherited metabolic disease service. Early diagnosis supports timely HSCT assessment and improves neurocognitive outcomes.
Diagnostic approach and newborn screening
The diagnostic pathway usually combines clinical assessment, biochemical testing and molecular confirmation.
Typical diagnostic steps
- Urinary GAGs and qualitative or quantitative GAG analysis
- Enzyme assay for alpha L iduronidase in leukocytes or dried blood spots
- Confirmatory IDUA gene sequencing and variant classification
- Extended assessments to stage disease severity and define phenotype
Newborn screening
For regions with newborn screening for MPS I:
- Raised screening results need prompt second tier testing and specialist review.
- Rapid phenotypic stratification is important to identify infants with probable MPS I-H who need urgent transplant assessment.
- Borderline or attenuated cases require structured follow up and clear communication with families.
Note: Diagnostic algorithms and screening cut offs vary by jurisdiction, and clinicians should follow their local or national protocols.
First steps once Hurler syndrome is suspected
Baseline assessments
Depending on age and presentation, initial work up may include:
- Full history, family history and examination including growth, development and dysmorphology
- Basic blood tests, coagulation, liver and renal function
- Echocardiogram and ECG
- Respiratory assessment and consideration of sleep studies
- Skeletal survey if not already performed
- Audiology and ophthalmology review where resources allow
Referral to specialist services
- Early referral to a metabolic centre or specialist lysosomal storage disorder service
- Early discussion with paediatric HSCT specialists where a classic Hurler phenotype is likely
- Genetic counselling input for the family, including recurrence risk and cascade testing
Clinicians are encouraged to refer on suspicion rather than waiting for all investigations to be complete.
Do not delay referral while waiting for all test results
Current management framework
For children with MPS I-H, combined use of HSCT, ERT and structured multidisciplinary follow up has become the standard of care in many centres. Management should be individualised based on age, phenotype, comorbidities and family priorities.
Disease modifying therapy
- HSCT in eligible children with classic Hurler phenotype
- ERT as a bridge to transplant and as long term therapy when HSCT is not undertaken
Supportive and organ targeted care
- Cardiac, respiratory, ENT, orthopaedic and neurology input
- Pain, mobility, communication, hearing and vision support
Multidisciplinary review and long term follow up
- Regular surveillance of key organ systems and neurocognition
For a more detailed discussion see current standard of care and research hub pages.
Communication, shared decisions and psychosocial support
Families face intense emotional, practical and ethical decisions, often over short time frames. Clinicians can support them by providing clear, honest information and recognising the burden of care.
Suggested professional practice:
- Use plain language alongside medical terminology
- Offer written and digital resources, and signpost to recognised support organisations
- Involve psychology, social work and palliative care teams early where possible
- Acknowledge uncertainty and be transparent about what is known and unknown
- Support parents and carers to prepare for repeated procedures and hospital stays
Key points for healthcare professionals
- Early suspicion, prompt metabolic referral and careful HSCT assessment are central to improving outcomes in Hurler syndrome.
- Management combines disease modifying therapy (HSCT, ERT), proactive organ specific care and structured multidisciplinary follow up.
- Emergency and anaesthetic care require particular attention to airway, cervical spine, cardiac and respiratory risk.
- Families benefit from clear communication, psychosocial support and access to reliable information and peer support.
- The Research Hub provides background on emerging therapies, translational pathways and clinical trials to support informed discussions with families and colleagues.
What to read next
Symptoms and diagnosis
Recognition, early signs and diagnostic pathways
Treatments and care
HSCT, ERT, supportive and multidisciplinary care
Emergency and anaesthetic information
Key considerations for high risk procedures
Living with Hurler syndrome
Family and patient facing information by age and setting
Research hub
Gene therapy, preclinical and translational work
Publications and resources
Key papers, guidelines and educational material