Which enzyme is deficient in Pompe 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.
How was Pompe disease discovered?
In 1932, Johannes Cassianus Pompe, a Dutch pathologist, described the disease in a 7-month-old infant who died of idiopathic hypertrophy of the heart; in addition to the cardiac problems, the infant had generalized muscle weakness. Dr.
Is Pompe disease recessive or dominant?
Pompe disease is inherited in an autosomal recessive genetic pattern, which implies that healthy parents can have affected children.
What is type II glycogen storage disease?
Glycogenosis type II, also known as glycogen storage disease type II, Pompe disease, or acid maltase deficiency, is a genetic muscle disorder caused by mutations in the gene encoding the acid alpha-glucosidase (GAA) enzyme, which is essential for the degradation of glycogen to glucose in lysosomes.
What happens when you have a maltase deficiency?
Signs and symptoms of acid maltase deficiency Massive cardiomegaly, soft murmur, and heart failure. Weakness and depressed or absent muscle stretch reflexes. Macroglossia. Moderate hepatomegaly.
What is the life expectancy of someone with 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.
Is Pompe disease painful?
The median pain severity score in Pompe patients reporting pain was 3.1 (on a scale from 0 to 10), indicating mild pain; against 2.6 amongst controls (p=0.06). The median score of pain interference with daily activities in patients who reported pain was 3.3, against 1.3 in controls (p=0.001).
Is it common 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.