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Pompe (POM-pay) disease, also known as glycogen storage disease type II or acid maltase deficiency, is a rare genetic disorder that results in profound muscle weakness. The disease is caused by mutations in the gene that instructs the body to make an enzyme called acid alpha-glucosidase (GAA).
Pfeiffer syndrome Causes. The cause of Pfeiffer syndrome is genetic and is associated with the Fribroblast growth factor receptors one and two. These receptors are important for normal, healthy bone development. In Pfeiffer syndrome these growth factors mutate and affect the bones in the head.he cause of Pfeiffer syndrome is genetic and is associated with the Fribroblast growth factor receptors one and two. These receptors are important for normal, healthy bone development. In Pfeiffer syndrome these growth factors mutate and affect the bones in the head.