Mucopolysaccharidosis II



What is mucopolysaccharidosis II?

Mucopolysaccharidosis II (MPS II) is an inherited disorder of carbohydrate metabolism that occurs almost exclusively in males. Their bodies can’t break down a kind of sugar that builds bones, skin, tendons, and other tissue. Those sugars build up in their cells and damage many parts of the body, including the brain. Exactly what happens is different for every person.

How common is mucopolysaccharidosis II?

Mucopolysaccharidosis II is rare. It commonly affects males. Please discuss with your doctor for further information.


What are the symptoms of mucopolysaccharidosis II?

The common symptoms of mucopolysaccharidosis II are:

  • Large, round cheeks
  • Broad nose
  • Thick lips and a large tongue
  • Bushy eyebrows
  • Large head
  • Slowed growth
  • Thick, tough skin
  • Short, broad hands with stiff, curled fingers
  • Joint problems that make it hard to move
  • Numbness, weakness, and tingling in his hands
  • A lot of coughs, colds, and sinus and throat infections
  • Breathing problems, including pauses in breathing at night, or sleep apnea
  • Hearing loss and ear infections
  • Trouble walking and weak muscles
  • Bowel problems, such as diarrhea
  • Heart problems, including damaged heart valves
  • Enlarged liver and spleen
  • Bone thickening

When a boy’s brain is affected, it’s likely he’ll have:

  • Trouble thinking and learning by the time he is 2 to 4 years old
  • Trouble talking
  • Behavior problems such as a hard time sitting still or aggression

There may be some symptoms not listed above. If you have any concerns about a symptom, please consult your doctor.

When should I see my doctor?

If you have any signs or symptoms listed above or have any questions, please consult with your doctor. Everyone’s body acts differently. It is always best to discuss with your doctor what is best for your situation.


What causes mucopolysaccharidosis II?

Boys with the disease can’t make a certain protein because there’s a problem with a small piece of their DNA, called a gene, that comes from their mother.

A dad with mucopolysaccharidosis II will pass the problem gene to his daughter, but she won’t get the disease unless she gets the gene from her mom, too.

It’s possible — but very, very unlikely — that someone could develop mucopolysaccharidosis II even though no one in their family going back has had it.

Risk factors

What increases my risk for mucopolysaccharidosis II?

Please discuss with your doctor for further information.

Diagnosis & treatment

The information provided is not a substitute for any medical advice. ALWAYS consult with your doctor for more information.

How is mucopolysaccharidosis II diagnosed?

Doctors often have to rule out other medical conditions first. Your doctor may ask:

  • What symptoms have you noticed?
  • When did you first see them?
  • Do they come and go?
  • Does anything make them better? Or worse?
  • Has anyone in your family had mucopolysaccharidosis II or another genetic disease?

If the doctors can’t find another explanation for your son’s symptoms, they’ll test for mucopolysaccharidosis II by checking for:

  • High levels of that certain sugar in his urine
  • How active the “missing” protein is in his blood or skin cells
  • The abnormal gene

After doctors are sure it’s mucopolysaccharidosis II, it’s a good idea to let extended family members know about the gene problem, too.

If you’re a pregnant woman and you know you carry the gene or you already have a child with mucopolysaccharidosis II, you can find out whether the baby you’re carrying is affected. Talk to your doctor about testing early in your pregnancy.

How is mucopolysaccharidosis II treated?

Early treatment may prevent some long-term damage.

Enzyme replacement therapy (ERT) can help slow the disease for boys with milder mucopolysaccharidosis II. It replaces the protein their body doesn’t make. ERT can help improve:

  • Walking, climbing stairs, and the ability to keep up in general
  • Movement and stiff joints
  • Breathing
  • Growth
  • Hair and facial features

ERT is the first treatment for kids whose brains aren’t affected. It doesn’t slow the disease in the brain.

Bone marrow and umbilical cord blood transplants. These transplants bring cells into your child’s body that can hopefully make the protein he’s missing. The new cells come from either a bone marrow donor whose cells match your child’s or the stem cells of umbilical cord blood from newborn babies.

Both of these treatments are high-risk. They’re usually used only if other treatments aren’t possible. They also haven’t been shown to help when the brain is affected.

Research is under way to find effective treatments for boys with severe mucopolysaccharidosis II.

Treating the symptoms. Because so many different parts of your child’s body can be affected, you’ll probably need to see several doctors to help you manage the condition, including:

  • Cardiologist: a heart specialist
  • Ear, nose, and throat specialist
  • Eye doctor
  • Lung specialist
  • Mental health professional
  • Neurologist: works with the brain and nerves
  • Speech therapist

Medication or surgery can ease some of the complications. Physical therapy can help with joint and movement issues. And occupational therapy can help you make changes at home and school to make it easier to get around and do things. Medications like melatonin may help with sleep.

Lifestyle changes & home remedies

What are some lifestyle changes or home remedies that can help me manage mucopolysaccharidosis II?

The following lifestyles and home remedies might help you cope with mucopolysaccharidosis II:

  • Set the tone for others. Be positive. Keep an open mind about other people; they may not know what to say so they don’t pry or offend or embarrass you. When someone asks about him, be matter-of-fact about his condition. Talk about him as a person — his interests, his curiosity, and his sunny personality, too. Let them know what his needs as well as his abilities are, and how they can help, if that’s appropriate.
  • Start stretching and range-of-motion exercises early to keep his joints flexible. Ask your physical therapist about ways to make exercises part of play. Choose large toys that are easy to grab and hold on to, that won’t be damaged by chewing.
  • Encourage friendships. Talk to other kids (or their parents) about how to interact with your son. Walk up to him from the front, with hands out. Give him about an arm’s length of space. It’s OK to remind him to touch nice and not hit. But kids will be kids, so prepare him for stares and teasing with role-play and humor.
  • Extra help for learning. Help him learn as much as he can while his brain is working well. If he goes to school, work with the staff to come up with an individualized education program (IEP) for him. He may be eligible for one-on-one attention in the classroom or help for other issues, like hearing problems.
  • Take care of yourself, too. You’ll do a better job caring for your child when you have people you can turn to to help out with caregiving tasks. Step back, and take a break to rest and recharge. Spend time nurturing your relationship with yourself and others you love. Remember, the whole family is affected by this disease. A counselor can help sort out feelings.

If you have any questions, please consult with your doctor to better understand the best solution for you.

Hello Health Group does not provide medical advice, diagnosis or treatment.

Review Date: October 27, 2017 | Last Modified: October 30, 2017

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