Late-Onset Pompe's Disease
Late-Onset Pompe's Disease
Glycogen storage disease type II, also known as Pompe's disease or acid maltase deficiency, is caused by a deficiency in acid α-glucosidase. Severe enzyme deficiency results in infantile Pompe's disease with multiorgan involvement; a partial deficiency produces a less severe phenotype mainly consisting of a myopathy, with a later age of onset. Treatment is now available with intravenous infusion of recombinant acid α-glucosidase. Such treatment results in marked improvement in patients with infantile Pompe's disease, and modest improvement or stabilization in patients with late-onset Pompe's disease.
Pompe's disease, also known as acid maltase deficiency or glycogen storage disease type II, occurs in a severe infantile form and in a less severe late-onset form that is the main subject of this review. The incidence of infantile Pompe's disease ranges in different regions from 1 in 35,000 in Taiwan to 1 in 138,000 in a Dutch population. One estimate suggests that late-onset Pompe's disease occurs in 1 in 57,000 people. One study found that the incidence of all types of Pompe's disease was 1 in 40,000 in New York State.
Abstract and Introduction
Abstract
Glycogen storage disease type II, also known as Pompe's disease or acid maltase deficiency, is caused by a deficiency in acid α-glucosidase. Severe enzyme deficiency results in infantile Pompe's disease with multiorgan involvement; a partial deficiency produces a less severe phenotype mainly consisting of a myopathy, with a later age of onset. Treatment is now available with intravenous infusion of recombinant acid α-glucosidase. Such treatment results in marked improvement in patients with infantile Pompe's disease, and modest improvement or stabilization in patients with late-onset Pompe's disease.
Introduction
Pompe's disease, also known as acid maltase deficiency or glycogen storage disease type II, occurs in a severe infantile form and in a less severe late-onset form that is the main subject of this review. The incidence of infantile Pompe's disease ranges in different regions from 1 in 35,000 in Taiwan to 1 in 138,000 in a Dutch population. One estimate suggests that late-onset Pompe's disease occurs in 1 in 57,000 people. One study found that the incidence of all types of Pompe's disease was 1 in 40,000 in New York State.
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