Mucopolysaccharidosis type i: symptoms, drugs, etc. • hello healthy

x

Definition

What is Mucopolysaccharidosis type I?

Mucopolysaccharidosis type I (MPS I) is a genetic disorder that causes the body to not produce a special protein, called alpha-L iduronidase. This protein is needed to break down sugar. When sugar builds up in the cells, it can cause damage throughout the body.

MPS I causes growth and development problems, as well as difficulty thinking and learning. This condition can also cause certain physical disabilities.

Mucopolysaccharidosis type I is a rare disorder. This condition is further divided into two categories: Severe MPS 1 which affects 1 in 100,000 live births, and Mild MPS 1 which occurs in 1 in 500,00 live births.

There are a number of treatments available to relieve symptoms and slow the progression of the disease. Most people who have this condition can do activities like healthy people, including going to school, working, and building a family.

Signs & Symptoms

What are the signs and symptoms of type I mucopolysaccharidosis?

Symptoms of type I mucopolysaccharidosis may include:

• The size of the head, lips, cheeks, tongue and nose that is larger than normal.
• The size of the vocal cords is large, which causes the sound to be heavier "bass".
• Recurrent upper respiratory tract infection.
• Sleep apnea.
• Hydrocephalus.
• Hepatosplenomegaly (swelling of the liver and spleen).
• Umbilical cord hernia.
• Inguinal hernia.
• Hearing loss
• Recurrent ear infections.
• Corneal clouding.
• Carpal tunnel syndrome.
• Narrowed spine (spinal stenosis).
• Heart valve abnormalities, which can lead to heart failure.
• Short body.
• Deformed joints.
• Dystotosis multiplex (thickening of the long bones, especially the ribs)
• Developmental delay or failure to thrive

The signs and symptoms of MPS 1 are not immediately obvious at birth, but they can begin to develop in childhood. People who have severe MPS 1 can experience more rapid development of symptoms than the slow MPS 1 type.

If you have any signs or symptoms above or any other questions, please consult your doctor. Everyone's body is different. Always consult a doctor to treat your health condition.

Cause

What causes mucopolysaccharidosis type I?

MPS I is a genetic condition that is passed from parent to child. However, you can only experience this when both parents pass on the genetic mutation.

If only one parent inherits this "defective gene," you will not have MPS 1. However, you can still pass the defective gene on to your offspring later.

Diagnosis & Treatment

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

How is mucopolysaccharidosis type I diagnosed?

MPS 1 is a rare condition. To rule out other possibilities and confirm a diagnosis, your doctor will ask you about your symptoms (when they started; what happened; whether they recurred; whether your symptoms get better if you do something, or they get worse) and your family medical history.

If your doctor cannot determine other causes of your condition, they will do a test for MPS I with a urine test to look for specific sugars and missing protein.

If it is confirmed that your condition is caused by MPS1, the doctor will advise you to tell other family members.

If you are a pregnant woman and after genetic testing, you know that you carry the genetic mutation that causes MPS 1, you can ask your doctor to check if your baby is at risk for this condition. Get a genetic test as early as possible in the early pregnancy.

How is type I mucopolysaccharidosis treated?

MPS1 can be treated with enzyme replacement therapy (ERT) which uses a drug called larodination (Aldurazyme). This drug is a synthetic version of the protein that is lost in the body with MPS 1. It can relieve most of the symptoms, and can slow the progression of the condition. However, it doesn't help with symptoms related to brain function, such as difficulty learning or thinking.

Another treatment option is hematopoietic stem cell grafts. This procedure is performed by implanting healthy stem cells that produce protein, from a donor into the body of the recipient. Usually these cells are obtained from the bone marrow or blood in the umbilical cord. If the graft is done before the child is 2 years old, their learning ability may improve. However, this procedure cannot correct problems with the bones and eyes.

Depending on your symptoms, you may need to work with other specialists, such as a heart specialist and an eye specialist.

Home Remedies

What are some lifestyle changes or home remedies that can be done to treat type I mucopolysaccharidosis?

Here are lifestyle and home remedies that can help you treat type I mucopolysaccharidosis:

• Support and encourage your child to be independent, confident, and outgoing. Invite them to move and play like other children.
• Stay positive. Show love and affection. Instill early on that even though your little one may look different, it doesn't mean they are "lacking". Every human being is born different. When other people ask about your child's condition, be honest about what illnesses they have, and what they can't do. Don't forget to mention the child's abilities, hobbies, and personality.
• Create a strategy with a team of doctors and teachers at children's schools to enable children to continue to have teaching and learning activities like normal school children. Maybe he needs special needs, such as a special bench or table.
• Avoid sports that require physical contact, such as football, floor exercises, basketball and similar sports to protect a child's neck.
• Make adjustments at home.

If you have any questions, consult your doctor for the best solution to your problem.

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