Pompe disease may be unfamiliar to parents . However, this is one condition that needs to be considered because it can cause serious problems for your little one’s health.
Pompe disease is often fatal, especially if not diagnosed very early. This is because it harms the skeletal muscles and the heart.
Help from a doctor and a specialized medical team can help treat and manage symptoms so your little one has a better quality of life. Plus, new treatments and ongoing clinical trials may lead to a better outlook in the future.
Definition of Pompe Disease
Quoting fromWebMD, Pompe disease occurs when the body cannot make a protein that breaks down complex sugars, called glycogen, which are then used for energy. Too much of this sugar buildup can eventually damage your little one’s muscles and organs.
Therefore, pompe disease can cause muscle weakness and even difficulty breathing . This condition mostly affects the liver, heart, and muscles. Parents may also have heard pompe disease referred to by other names such as GAA deficiency or glycogen storage disease type II (GSD).
Although it can happen to anyone, it is more common in African-Americans and some Asian groups.
Launching the pageRare disease,Pompe disease is a rare disease with varying degrees of disease progression and different ages of onset (when the disease appears). The first symptoms can occur at any age from birth to late adulthood.
Earlier onset compared with later onset is usually associated with more rapid progression and greater severity of the disease. At all ages, skeletal muscle weakness characterizes the disease, causing mobility problems and affecting the respiratory system.
The most severely affected infants usually present within the first 3 months of birth. They have typical heart problems (dysfunction due to an enlarged heart) in addition to general skeletal muscle weakness and a life expectancy of less than 2 years, if untreated (classic infantile pompe disease).
A less severe form of Pompe disease with onset during childhood, adolescence, or adulthood, rarely presents with heart problems . However, it gradually causes walking disability and decreased respiratory function.
The scientific literature has different ways of dividing the clinical spectrum of pompe disease. Some articles describe ‘classic infantile’, ‘childhood’ and ‘adult’ pompe disease, while others discuss ‘infantile onset’ (IOPD) and ‘late onset’ (LOPD) disease.
Symptom
What symptoms your little one experiences, when they start, and how much trouble they have can vary greatly from person to person.
A baby between a few months and 1 year of age will have early-onset, or infantile, Pompe disease. Symptoms may include:
- Difficulty eating and not gaining weight
- Poor head and neck control
- Rolling and sitting up slower than expected
- Respiratory problems and lung infections
- Enlargement and thickening of the heart or heart abnormalities
- Liver enlargement
- Enlarged tongue
If it’s an adult who experiences it when symptoms start – up until adulthood around age 60 – it’s known as late-onset Pompe disease. This type tends to move slowly, and it usually doesn’t affect heart health.
Symptoms may include:
- Feeling weak in the legs, body and arms
- Shortness of breath, difficulty exercising, and lung infections
- Difficulty breathing while sleeping
- Large curve in the spine
- Liver enlargement
- The tongue is enlarged making it difficult to chew and swallow.
- Stiff joints
Reason
Mutations in the GAA gene cause this rare disease. The GAA gene provides instructions for producing an enzyme called acid alpha-glucosidase (also known as acid maltase).
This enzyme is active in lysosomes, which are structures that serve as recycling centers within cells. The enzyme typically breaks down glycogen into a simple sugar called glucose, which is the primary energy source for most cells.
Mutations in the GAA gene prevent acid alpha-glucosidase from breaking down glycogen effectively, allowing this sugar to build up to toxic levels in lysosomes.
This buildup damages organs and tissues throughout the body, especially muscles, leading to the progressive signs and symptoms of Pompe disease.
‘Enzyme replacement therapy’ (ERT), the only treatment currently available, aims to replenish the GAA deficiency by intravenous administration of industrially produced ‘rhGAA’ (recombinant human GAA).
Pompe disease is inherited in an autosomal recessive genetic pattern, which implies that healthy parents can affect their children.
Frequency of Occurrence
Because this is a genetic condition , people affected by this disease inherit it from their parents. However, usually neither parent shows any symptoms.
In fact, this disease is quite rare. In the United States, only 1 person in 40,000 is affected by pompe disease. It can affect men and women of all ethnic groups.
Risk Factors
Since this is a disease caused by a gene mutation problem, the risk factor is greater if both parents have the same condition.
The risk for two carrier parents to pass on the defective gene, and therefore, they have a 25% chance of having a child with the same condition in each pregnancy.
The risk of having a child who is a carrier, like the parents, is 50% in each pregnancy. The chance of a child receiving the working gene from both parents is 25%. The risk is the same for males and females.
Diagnosis
Many of the symptoms are similar to other medical conditions. To help figure out what’s going on, your doctor may ask:
- Does your little one feel weak, fall frequently, or have difficulty walking, running, climbing stairs, or standing?
- Is your little one having difficulty breathing, especially at night or when you lie down?
- Does your little one have a headache in the morning?
- Is your little one often tired during the day?
- What health problems has your little one experienced?
- Does anyone else in the family have this kind of problem too?
Your little one may need to have tests, depending on their symptoms, to rule out other conditions.
If your doctor thinks your child may have Pompe disease, it will usually be confirmed with the following tests:
- Check a muscle sample to see how much glycogen is present.
- Check blood samples to see how well the “bad” proteins are working.
- Look for genetic problems that cause pompe disease
It takes about 3 months to diagnose pompe disease in infants. It can take as long as 7-9 years for children and adults. Once the doctor is sure, it is a good idea to test family members for the genetic problem as well.
Complications
Without treatment, babies with Pompe disease will die. Many people with the disease have breathing problems, heart problems, and almost all are plagued by muscle weakness. Most people need to use oxygen and wheelchairs at some point.
Handling of Pompe
Enzyme replacement therapy (ERT) is an approved treatment for all Pompe patients. A drug called alglucosidase alfa is given intravenously (through the patient’s vein). It is a genetically engineered enzyme that acts like the natural acid alpha glucosidase enzyme.
A team of specialists (such as cardiologists, respiratory therapists, neurologists) can treat symptoms and offer supportive care for those with Pompe disease. Ask your doctor for details for each specific case.
Three drugs replace missing proteins and help your body process sugar properly. You take them by injection.
- Lumizyme
- Myozyme, for babies and children
- Nexviazyme, for those 1 year of age and older with late-onset pompe disease
Prevention
There is no way to prevent this disease, as it is a genetic disease. This means that doctors and researchers cannot know for sure about the gene mutations that occur during embryo fertilization.
That’s the information about Pompe disease, hopefully it’s useful!
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Republished with permission from theAsianParent Indonesia
