LA14037-8
Pompe disease
Active
Answer Description
Pompe disease is an inherited disorder caused by the buildup of a complex sugar called glycogen in the body's cells. The accumulation of glycogen in certain organs and tissues, especially in muscles, impairs their ability to function normally. Major features of Pompe disease include muscle weakness, heart abnormalities, and breathing problems. This disorder is caused by mutations in the GAA gene; it has an autosomal recessive pattern of inheritance.
Answer Lists using this Answer Code
| Answer List | Answer List Name | Externally Defined |
|---|---|---|
| LL1043-0 | LDS | N |
| LL835-0 | NBS conditions | N |
| LL841-8 | NBS conditions tested | N |
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