- 1 What is the life expectancy of someone with Pompe disease?
- 2 Is Pompe disease curable?
- 3 How do people get Pompe?
- 4 How do you test for Pompe disease?
- 5 What does Pompe disease cause?
- 6 Why is it called Pompe disease?
- 7 What is the treatment for Pompe disease?
- 8 How was Pompe disease discovered?
- 9 What is Fabry’s Disease?
- 10 What chromosome is Pompe disease on?
- 11 How are lysosomes affected by Pompe disease?
- 12 Is Pompe disease a mitochondrial disease?
- 13 How does enzyme replacement therapy work?
- 14 What type of term is Pompe’s disease?
What is the life expectancy of someone 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.
Is Pompe disease curable?
Unfortunately, no cure exists. However, Pompe disease has recently benefited from the introduction of enzyme replacement therapy (ERT), which, although expensive, is a major therapeutic advance.
How do people get Pompe?
Pompe disease is inherited in an autosomal recessive pattern. This means the disease only develops in people who inherit two faulty copies of the gene, one from each parent. People with only one faulty gene do not show disease signs or symptoms.
How do you test for Pompe disease?
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.
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. It mostly affects the liver, heart, and muscles.
Why is it called Pompe disease?
The disease is named after Joannes Cassianus Pompe, who characterized it in 1932. Pompe described accumulation of glycogen in muscle tissue in some cases of a previously unknown disorder.
What is the treatment for Pompe disease?
Enzyme replacement therapy (ERT) is an approved treatment for all patients with Pompe disease. It involves the intravenous administration of recombinant human acid alpha-glucosidase (rhGAA).
How was Pompe disease discovered?
During extensive work using laboratory animals, Duve’s colleague Henri Hers realised that a deficiency inside lysosomes of GAA, the enzyme that breaks down glycogen, would explain the symptoms of Pompe disease. He established that Pompe’s disease is a lysosomal storage disorder (LSD).
What is Fabry’s 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 chromosome is Pompe disease on?
Pompe disease is a rare autosomal recessive disorder caused by mutations in an enzyme that degrades glycogen. The gene located on chromosome 17 (17q25.
How are lysosomes affected by Pompe disease?
Pompe disease is a lysosomal storage disorder in which acid alpha-glucosidase (GAA) is deficient or absent. Deficiency of this lysosomal enzyme results in progressive expansion of glycogen-filled lysosomes in multiple tissues, with cardiac and skeletal muscle being the most severely affected.
Is Pompe disease a mitochondrial disease?
Objective. 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.
How does enzyme replacement therapy work?
How Does Enzyme Replacement Therapy Work? ERT balances low levels of glucocerebrosidase (GCase) enzyme with a modified version of the enzyme. This enzyme breaks down glucocerebroside, the fatty chemical that accumulates in the body of patients with Gaucher disease.
What type of term is Pompe’s disease?
Pompe disease is a genetic disorder in which complex sugar called glycogen builds up in the body’s cells. The disease results from the deficiency of an enzyme called acid alfa glucosidase (GAA), which breaks downs complex sugars in the body.