Today, we focus on Hunter Syndrome (Mucopolysaccharidosis Type II or MPS II)—a rare genetic disorder that affects the body’s ability to break down certain sugars. Over time, these sugars build up in cells, causing progressive damage to organs, bones, and the brain.
Dr. Roshan Daniel (MBBS, MD, DM Medical Genetics), one of India’s leading medical geneticists, has helped many families diagnose and manage Hunter Syndrome. Early diagnosis and treatment can improve quality of life and slow down disease progression.
What is Hunter Syndrome?
Hunter Syndrome is a genetic disorder where the body lacks an enzyme called iduronate-2-sulfatase (I2S). This enzyme helps break down complex sugars in the body. Without it, sugars accumulate in different organs, leading to growth delays, breathing issues, stiff joints, and brain damage.
💡 Hunter Syndrome mostly affects boys since the faulty gene is on the X chromosome.
Symptoms of Hunter Syndrome
Symptoms usually appear between ages 2 and 4 and worsen over time.
Early Symptoms (Before Age 5)
✔ Frequent colds, ear infections, and runny nose
✔ Delayed speech and slow development
✔ Large head, thick lips, broad nose
✔ Stiff joints (trouble raising arms, bending fingers)
Later Symptoms (Ages 5-10)
✔ Liver and spleen enlargement (swollen belly)
✔ Hearing loss
✔ Breathing difficulties and noisy breathing (due to airway blockage)
✔ Heart problems
✔ Progressive intellectual decline (in severe cases)
Advanced Stage (After Age 10)
✔ Difficulty walking or moving
✔ Severe brain damage (in some cases)
✔ Shortened life expectancy
💡 Symptoms vary from mild to severe. Some children have normal intelligence, while others have learning difficulties.
How Does Hunter Syndrome Run in Families?
💡 Hunter Syndrome is inherited through the X chromosome.
💡 Since boys have only one X chromosome, they are usually affected. Girls can be carriers and rarely show symptoms.
💡 If a mother is a carrier, each son has a 50% chance of having Hunter Syndrome.
Dr. Roshan Daniel’s Experience with Hunter Syndrome
✅ Some children are diagnosed due to delayed growth and stiff joints.
✅ Some cases are found because of repeated infections or noisy breathing.
✅ Many patients are diagnosed late because early symptoms are mistaken for common childhood issues.
✅ Genetic testing has helped families confirm the diagnosis and plan future pregnancies.
💡 Cost of Testing (as of February 2025):
✔ Urine Test for Sugar Storage Diseases: ₹2,000 – ₹3,000
✔ Enzyme Activity Test for I2S Deficiency: ₹2,000 – ₹3,000
✔ Genetic Test (IDS Gene Analysis): ₹20,000 – ₹30,000, results in 14 working days
How is Hunter Syndrome Diagnosed?
Doctors use different tests to confirm the disease:
✔ Urine Test – Checks for excess sugar buildup in the body.
✔ Enzyme Test (I2S Activity Test) – Measures the missing enzyme.
✔ Genetic Testing (IDS Gene Mutation Test) – Confirms the diagnosis.
💡 Since Hunter Syndrome worsens with time, early diagnosis is important.
How is Hunter Syndrome Treated?
There is no cure, but treatment helps manage symptoms and slow disease progression.
🔹 Enzyme Replacement Therapy (ERT) – A lifelong treatment that replaces the missing enzyme.
🔹 Physical Therapy – Keeps joints flexible and prevents stiffness.
🔹 Hearing Aids – Helps with progressive hearing loss.
🔹 Breathing Support (CPAP/BiPAP) – Helps children breathe better at night.
🔹 Heart Monitoring – Regular check-ups to prevent heart issues.
💡 Early treatment improves movement, breathing, and quality of life.
FAQs on Hunter Syndrome
💡 What causes Hunter Syndrome?
It is caused by a faulty gene (IDS) that prevents the body from breaking down certain sugars.
💡 Can Hunter Syndrome run in families?
Yes. If the mother is a carrier, each son has a 50% chance of having the disease.
💡 Can it be diagnosed before birth?
Yes. If the mother is a carrier, prenatal genetic testing (amniocentesis or CVS) can check if the baby has Hunter Syndrome.
💡 Cost of Prenatal Testing: ₹35,000 (as of February 2025)
💡 Can children with Hunter Syndrome live normal lives?
With treatment, some children live longer and stay active, but severe cases may have limited mobility and intellectual decline.
✔ Enzyme therapy can slow disease progression.
✔ Physical therapy helps maintain movement.
✔ Regular doctor visits are important to monitor health.
💡 Dr. Roshan Daniel has helped many families improve the quality of life for children with Hunter Syndrome.
💡 What happens if Hunter Syndrome is not treated?
Without treatment, symptoms get worse over time, leading to:
✔ Severe breathing and heart problems.
✔ Loss of movement and mental decline.
✔ Shortened life expectancy.
💡 Early diagnosis and therapy can slow down the disease and improve quality of life.
💡 Can Hunter Syndrome happen in future pregnancies?
Yes. If the mother is a carrier, each pregnancy has a 50% chance of passing on the disease.
✔ Prenatal testing (₹35,000) can check if an unborn baby has it.
✔ IVF with Preimplantation Genetic Diagnosis (PGD) can help ensure only healthy embryos are implanted.
💡 Dr. Roshan Daniel has helped many families plan safe pregnancies through genetic counselling.
Genetic Testing, Treatment and Counselling for Hunter Syndrome
At KIMSHealth, Trivandrum, under the leadership of Dr. Roshan Daniel, we offer:
✔ Urine and enzyme tests for early diagnosis
✔ Genetic testing for IDS gene mutations
✔ Enzyme therapy and supportive care
✔ Family screening and genetic counselling
✔ Online consultations for remote patients
If you or a family member has developmental delays, breathing issues, or joint stiffness, early testing can provide answers and treatment options.
Join Us in Spreading Awareness!
Hunter Syndrome is rare, but early treatment makes a difference. Spreading awareness about symptoms, testing, and available therapies can help children live longer and healthier lives.
📢 No disease is too rare to care. Join us in spreading awareness and ensuring that families get the right treatment at the right time.
For expert advice on genetic testing, counselling, or Hunter Syndrome care, contact Dr. Roshan Daniel at KIMSHealth today! 💙