What is it?
A genetic condition storage disease disorder where the enzyme called enzyme iduronate-2-sulfatase is deficient or one does not have the ability to make it or its not working as it should.
- These enzymes in our body cells (the part of the body cell is called lysosome) to clean up and dispose of a long chains of sugar molecules breakdown of complex carbohydrates called mucopolysaccharides in the body otherwise unable to break down.
- There are 7 sub-types of MPS disease:
- The condition occurs in 1 in 100,000 to 1 in 150,000 males
- A slightly higher incidence has been noted among Jewish people living in Israel
There are two types of Hunter syndrome—early-onset and late.
Early onset
- Usually diagnosed in children aged 18 to 36 months.
- Life expectancy for this form can vary, with some children living until their second and third decades of life.
Late onset
- Milder than early-onset and may not be diagnosed until adulthood.
- Individuals with the late form of the disease have a much longer life expectancy and may live into their 70s.
- Their physical features are similar to those with severe MPS II; however, people with the late version of MPS II usually have normal intelligence and are lacking the severe skeletal problems of the more severe type.
verywellhealth
Cause
- Pass down through X-linked chromosomes – the mutated, or defective, gene is located on the X chromosome.
- The X and Y chromosomes are probably best known for their role in determining a baby’s gender as male or female. Females have two X chromosomes while males have one X chromosome and one Y chromosome. However, the X and Y chromosomes have many other genes on them in addition to those that determine the sex of a child. In the case of Fabry disease, the X chromosome carries the defective gene which encodes the enzyme.
- Men with this disease pass their X chromosome to all of their daughters such that all daughters of affected men will carry the gene for this disease.
- Affected men do not pass this disease gene to any of their sons, because sons, by definition, receive their father’s Y chromosome and cannot inherit Fabry disease from their father.
- When a woman with this gene has a child, there is a 50:50 chance she will pass her normal X chromosome to the child. There is also a 50% chance that each child born to a woman with the this gene will inherit the affected X chromosome and have the this gene.
verywellHealth
Symptoms
Early onset symptoms
- Coarse facial features
- Short stature?
- Progressive and profound mental retardation?
- ivory-colored skin lesions on the upper back and sides of the upper arms and thighs?
- skeletal changes, joint stiffness, short neck, broad chest, and too-large head?
- progressive deafness?
- Atypical retinitis pigmentosa and visual impairment
- Enlarged liver and spleen?
Late onset symptoms
- Milder symptoms of the above without coarse features and one has normal intelligence?
Complications /Information to beware of/General tips:
This condition can lead to:
This condition may show similar symptoms to:
Please talk to your healthcare professional (i.e. Medical Doctor/Pharmacist) for further advice
Detailed Information
Please copy and paste any key words from the title: Hunter Syndrome in the following respective 'Medtick References and/or Sources' to find out more about the disease (this also may include diagnosis tests and generic medical treatments).
- NHS
Find information and advice on health conditions, symptoms, healthy living, medicines and how to get help (British National Health Service).
- Medscape
Latest medical news and expert commentary in your specialty as well as disease information.
- Pharmaceutical Journal
The Pharmaceutical Journal covers analysis, features, opinion, learning and careers articles, providing insight and knowledge about drugs, pharmacy practice, medicines use and healthcare policy in the context of the pharmacy profession and pharmaceutical science.
- Healthline
Medical Information and health advice you can trust
- ChatGPT
Get instant answers, find creative inspiration, and learn something new.
- Medical News Today
Medical news and health news headlines posted throughout the day, every day.
- WebMD
Better Information. Better Health.
- Cleveland Clinic
Pushing the Standards of care.
- Mayo Clinic
No.1 Hospital in the Nation (America)
- Drugs.com
Know more. Be sure.
- National Organisation of Rare Diseases
NORD is dedicated to supporting education, elevating care, advancing research, and driving policy for rare diseases.
- Verywell Health
Know more. Fell better.
- Fit for Travel
Information on how to stay safe and healthy abroad.
- DR Axe
Health and fitness news. Recipes, Natural Remedies
