How is Pompe disorder caused by a recessive allele?
Pompe disease (PD) is an autosomal recessive lysosomal disorder caused by the deficient activity of acid alpha-glucosidase (GAA) enzyme due to mutations in the GAA gene. The enzymatic deficiency leads to the accumulation of glycogen within the lysosomes.
What type of disease is Pompe?
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.
What chromosome is Pompe disease?
Pompe disease is transmitted as an autosomal recessive trait and is caused by mutations in the gene encoding the acid α-glucosidase (GAA), located on chromosome 17q25.
How common is it to be a carrier of Pompe disease?
If both parents have Pompe disease, then every child will inherit the disease. If one parent has the disease and the other is a carrier, each child has a 50% chance of inheriting the disease and a 50% chance of being a carrier.
Is Pompe disease treatable?
Unfortunately, no cure exists. However, Pompe disease has benefited from the introduction of enzyme replacement therapy (ERT), which, although expensive, is a major therapeutic advance. ERT benefits are attenuated by antibody formation, which has led to interest in combining ERT with immune modulation.
How fast does Pompe disease progress?
Although hardly any symptoms may be apparent at birth, the disease usually presents within the first three months of life with rapidly progressive muscle weakness (‘floppy infants’), diminished muscle tone (hypotonia), respiratory deficiency, and a type of heart disease known as hypertrophic cardiomyopathy, a condition …
Can you survive Pompe disease?
They can survive up to age 30 if the disease appears in childhood and up to age 50 if it develops in adulthood. Generally, the later the age of onset, the slower the disease progression and the longer the life expectancy.
How is Pompe disease a recessive genetic disease?
Pompe disease is a rare autosomal recessive genetic disease caused by the inheritance of pathogenic recessive mutations in both copies of the GAA gene.
How does Pompe disease affect the human body?
This buildup damages organs and tissues throughout the body, particularly the muscles, leading to the progressive signs and symptoms of Pompe disease. This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations.
Can a person with Pompe disease be a carrier?
This means that both parents of a person with Pompe must carry at least one copy of the faulty gene. Carrying only one defective gene makes a person a carrier, but does not result in the person developing Pompe disease.
How big is the GAA gene in Pompe disease?
Pompe disease is a rare autosomal recessive genetic disease caused by the inheritance of pathogenic recessive mutations in both copies of the GAA gene. The GAA gene is about 18.3 kb long and contains 20 exons (coding regions), interspersed by non-coding introns (Figure 1).
Pompe disease is a rare autosomal recessive genetic disease caused by the inheritance of pathogenic recessive mutations in both copies of the GAA gene.
What kind of muscle weakness does Pompe disease cause?
Pompe disease causes muscle weakness and trouble breathing. It mostly affects the liver, heart, and muscles. You might hear Pompe disease called by other names such as GAA deficiency or type II glycogen storage disease (GSD).
Do you have to be born with Pompe disease?
To get it, you have to inherit two flawed genes, one from each parent. You can have one gene and not have symptoms of the disease. What symptoms you have, when they start, and how much trouble they are can be very different for different people. A baby between a few months old and age 1 has early-onset, or infantile, Pompe disease.
Pompe disease is a rare autosomal recessive genetic disease caused by the inheritance of pathogenic recessive mutations in both copies of the GAA gene. The GAA gene is about 18.3 kb long and contains 20 exons (coding regions), interspersed by non-coding introns (Figure 1).