Quick Answer: What Is The Genetic Cause Of Pompe Disease?

What type of mutation causes Pompe disease?

Mutations in the GAA gene cause Pompe 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..

How common is Pompe disease?

Pompe disease is a rare (estimated at 1 in every 40,000 births), inherited and often fatal disorder that disables the heart and skeletal muscles. It is caused by mutations in a gene that makes an enzyme called acid alpha-glucosidase (GAA).

Is Pompe disease muscular dystrophy?

A few muscular dystrophies may have symptoms that are like those seen in childhood and adult Pompe disease including facioscapulohumeral dystrophy (FSHD), Duchenne muscular dystrophy and Becker muscular dystrophy. FSHD is characterized by weakness of facial, shoulder (scapular winging), and upper arm muscles.

Is Pompe disease a mitochondrial disease?

Pompe disease (PD) is a progressive neuromuscular disorder that is caused by glucosidase acid alpha (GAA) deleterious mutations. Mitochondrial involvement is an important contributor to neuromuscular diseases.

What is Gaucher disease?

Gaucher disease is an autosomal recessive inherited disorder of metabolism where a type of fat (lipid) called glucocerebroside cannot be adequately degraded. Normally, the body makes an enzyme called glucocerebrosidase that breaks down and recycles glucocerebroside – a normal part of the cell membrane.

How long can you live with Pompe disease?

Life expectancy for late-onset Pompe disease is currently estimated to be age 30 when it first appears in children or teenagers, and 50 years of age for adults. Pompe Disease News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis or treatment.

Is Pompe disease curable?

Although there is currently no cure for Pompe disease, different treatment options can help to ease its symptoms.

What are the signs and symptoms of Pompe disease?

What are the symptoms of each type of Pompe disease?Weak muscles.Poor muscle tone.Enlarged liver.Failure to gain weight and grow at the expected rate (failure to thrive)Trouble breathing.Feeding problems.Infections in the respiratory system.Problems with hearing.

What is enzyme replacement therapy for Pompe?

Enzyme replacement therapy (ERT) is the only effective treatment for Pompe disease. In this therapy, acid alpha-glucosidase, the enzyme that is deficient in Pompe disease, is given via an injection. This allows patients to break down the glycogen stored up in their tissues into the more usable glucose.

What is Fabry disease?

Fabry disease is an inherited disorder that results from the buildup of a particular type of fat, called globotriaosylceramide, in the body’s cells. Beginning in childhood, this buildup causes signs and symptoms that affect many parts of the body.

What does Pompe disease cause?

Pompe disease happens when your body can’t make a protein that breaks down a complex sugar, called glycogen, for energy. Too much sugar builds up and damages your muscles and organs. Pompe disease causes muscle weakness and trouble breathing.

How is Pompe disease diagnosed?

While enzyme activity tests are the main diagnostic approaches when Pompe disease is suspected, genetic testing may also be requested. DNA analysis, based on a sample of blood or spit, can examine the GAA gene to determine mutations in a patient. Mutation analysis on a blood sample can confirm this diagnosis.

Is Pompe disease painful?

Some have low back pain. Enlargement of the heart or liver, a classic symptom of infantile onset Pompe disease, is rarely seen in late-onset Pompe disease.

Is Pompe disease contagious?

Is Pompe disease contagious? No. Pompe disease is inherited, but it cannot be acquired through physical contact with the affected person.

What gene causes Pompe disease and how is it inherited?

Pompe is a genetic disease that is inherited in an autosomal recessive pattern, meaning that a person develops the disease only if both copies of the GAA gene they inherit are faulty. People with one mutated copy of the gene are called carriers.

What type of doctor treats Pompe disease?

Specialist teams (heart doctors, respiratory therapists, neurologists, etc.) can treat symptoms and offer supportive care for those with Pompe disease. Ask your doctors about details for each specific case.

What is late onset Pompe disease?

Late-onset Pompe disease (LOPD) is a recessive disease caused by α-glucosidase (GAA) deficiency, leading to progressive muscle weakness and/or respiratory failure in children and adults. Respiratory derangement can be the first indication of LOPD, but the diagnosis may be difficult for pneumologists.