What is acid maltase deficiency?

The glycogen storage disease known as acid maltase deficiency is an inherited condition in which an enormous sugar molecule, glycogen, builds up within the cells of the body. This condition is caused by a deficiency of the digestive enzyme acid alpha-glucosidase (GAA). GAA usually serves to break down the big complex sugars in your body.

The condition is also called:

• Pompe's disease.
• Type II glycogen storage disease, abbreviated as GSD2.

Also, doctors call acid maltase deficiency a lysosomal storage disorder. Your cells have very small spaces called lysosomes where specific materials are stored and recycled. These materials are broken down by enzymes, such as GAA-also known as acid maltase.

In the absence of this enzyme, glycogen accumulates inside the lysosomes. Your organs and tissues, especially your heart and skeletal muscles, experience this accumulation, which leads to their breakdown.

What are the signs and symptoms of acid maltase deficiency?

Progressive muscle weakening affects skeletal muscles of your hips, legs, arms, and diaphragm, most affecting the muscles in your shoulder girdle. Infants may have weak muscles or "floppy infant syndrome" (hypotonia). Other characteristics may include cardiomegaly, hepatomegaly, and macroglossia.

Other symptoms of infantile acid maltase deficiency may include:

• Breathing problems.
• Feeding problems.
• Respiratory infections.
• Deafness.

Symptoms of late-onset acid maltase deficiency may be less severe and progress slowly. However, they can be associated with severe muscle weakness and breathing (respiratory) problems. They can include:

• Progressively lose the strength of trunk and legs.
• Gradually making walking difficult.
• Soreness all over muscle.
• Loss of exercisability.
• Frequent falling.
• Frequent respiratory illness.
• Shortness of breath (dyspnea) on exertion.
• Morning headaches.
• Fatigue during the day.
• Unintentional weight loss.
• Difficulty swallowing (dysphagia).
• Irregular heartbeat (arrhythmia).
• Increased difficulty hearing.

Why does acid maltase deficiency happen?

Acid maltase deficiency is caused by mutations in the GAA gene. The GAA gene produces an enzyme called acid alpha-glucosidase. This enzyme helps in the breakdown of glycogen in your body, which is a complex sugar.

Normally, your body breaks glycogen into glucose so that it may use it for energy. Acid alpha-glucosidase works in the lysosomes that are part of your cells. Your cells' lysosomes work much like recycling facilities. Enzymes break down chemicals and transfer them to your body for use in new ways, including producing energy.

People suffering from acid maltase deficiency a GAA gene mutation, resulting in decreased or absent acid alpha-glucosidase. Without this enzyme, your body cannot break down glycogen efficiently. Symptoms of the disease arise due to the accumulation of glycogen in your lysosomes, which seriously damages your muscles.

Because the disorder is autosomal recessive, copies of the defective gene must be passed down to you from both of your parents. Although both parents are carriers of acid maltase disease, they often do not exhibit any symptoms.

What acid maltase disease complications exist?

Infantile-onset acid maltase disease is fatal at early childhood unless treated. Patients with acid maltase disease typically suffer from heart and respiratory complications. The most frequent symptom of the disease is muscle weakness. Most will experience the need for support in mobility and oxygen support at some point in their lifetime.

How is the diagnosis of acid maltase disease done?

In addition to conducting a physical examination, your doctor will ask you about your biological family history. For the analysis of the enzyme creatine kinase, the doctor you visit will take blood test. This test detects signs of muscle damage. Testing the level of enzyme activity in your blood is a more definitive procedure. Your doctor may also test the GAA gene in your body through genetic testing.

In addition, you may be tested with:

• Pulmonary function tests: Breathing tests that measure lung capacity
• Electromyography: A test that measures muscle function
• Heart studies: These include an electrocardiogram (EKG) and an echocardiogram (echo)
• Sleep studies: These tests record specific body functions when you are asleep.

How is acid maltase disease treated?

Enzyme replacement therapy (ERT) is one of the treatments for acid maltase disease. You will be given one of the following drugs intravenously (through your vein) by your doctor or nurse:

• Alpha -avalglucosidase
• Alpha-alglucosidase

The enzymes in these medications are genetically modified to function similarly to those found in nature. They are helpful:

• To reduce the size of your heart.
• Continue to have a healthy heart.
• Build up the strength, tone, and function of your muscles, or at the very least, slow the progression of the disease.
• Reduce the accumulation of glycogen.

A team of experts will also treat your particular symptoms and provide supportive care. Team members may include:

• Occupational, respiratory, and physical therapists.
• Cardiac specialists.
• Neurologists.

Depending on how serious your illness is, you may need:

• Occupational therapy or physical therapy.
• A feeding tube.
• Mechanical air conditioning.

The researchers are currently conducting clinical studies to find gene therapy for acid maltase disease. In gene therapy, healthy genes replace the defective ones so that your body can make acid alpha-glucosidase in the proper way.

How to prevent acid maltase deficiency?

It is impossible to prevent acid maltase deficiency since it's an inherited disorder. However, in case you are pregnant or want to become pregnant, consider visiting your doctor and consulting over genetic counseling.

What is acid maltase deficiency life expectancy?

Babies with infantile-onset acid maltase deficiency often die of respiratory or heart failure if they are not diagnosed early and treated.

People that get acid maltase deficiency later on in life, usually live a longer time due to how slowly the illness moves. Again, this will depend on how bad of a sickness it is as well as the age a person has it. It is normally when the person gets it older, so the diseases usually worsen more slowly.

When do I need to see my doctor?

If you or your child shows signs of acid maltase deficiency, seek medical help as soon as possible. The earlier the diagnosis of this disorder, the better their quality of life will be as a child and also an adult.

How can I take care of myself or my child with this illness?

Discussing things with a doctor could be useful in cases where you or your child has acid maltase deficiency. Consultation with a psychologist would benefit you in understanding the nature of the disease and understanding your feelings about it. Support groups can help connect people who are going through exactly what you are experiencing as well. There are actually many people who experience carer tiredness or burnout. It happens all the time, but you and your child need to be taken care of.

What questions should I ask my doctors about acid maltase deficiency?

If you or your child receives a diagnosis of acid maltase deficiency, here is what you may want to ask your doctor:

• How bad is my child's acid maltase deficiency?
• How long do you think my child will live?
• Which doctors do we need to see?
• How often should we consult these experts?
• What can I do to make my kid feel good?
• Should genetic testing be done on other family members?
• How can I adjust to having acid maltase deficiency?

Why Tender Palm Super-Speciality Hospital for acid maltase deficiency?

Tender Palm Hospital, owned by doctors, is renowned for attracting the most experienced professional in the country. With the finest neurologist and neurosurgeons specialized in acid maltase deficiency. Tender Palm stands out as the premier Neurology hospital in Lucknow, India. Boasting cutting-edge infrastructure and advanced technology, Tender Palm ensures top-notch medical care for its patients.

To seek an expert consultation for any Neurology condition

Call us at +91-9076972161
Email at care@tenderpalm.com

Request a Call Back