Pompe's disease


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Pompe's disease

 [pom´pez]
glycogen storage disease (type II), a condition in which deficiency of the enzyme α-1,4-glucosidase results in generalized glycogen accumulation, with cardiomegaly and usually fatal cardiorespiratory failure; children affected with this disease are mentally retarded and hypotonic. Called also generalized glycogenosis.

Pompe's disease

Etymology: J.C. Pompe, twentieth-century Dutch physician; L, dis, opposite of; Fr, aise, ease
a rare genetic disorder that is a form of muscle glycogen storage disease, characterized by a generalized accumulation of glycogen resulting from a deficiency of acid maltase (alpha-1,4-glucosidase). It is usually fatal in infants, causing cardiac or respiratory failure. Children with Pompe's disease appear mentally retarded and hypotonic, seldom living beyond 20 years of age. In adults, muscle weakness is progressive, but the disease is not fatal. Also called glycogen storage disease, type II. See also glycogen storage disease.
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Pompe's disease: glycogen in myocardial fibers

Pompe's disease

see bovine generalized glycogenosis, glycogenosis type I.

Patient discussion about Pompe's disease

Q. help with tingling in the hands amd numness

A. I have experienced the same conditions in the past on numerous occasions. The malady, more than likely, is Carpal Tunnel Syndrome. You should consult a neurologist for a diagnosis.

More discussions about Pompe's disease
References in periodicals archive ?
In one recent trial, four infants with Pompe's disease received weekly infusions of the enzyme collected from rabbit milk.
This enzyme replacement therapy for Pompe's disease is based on human alpha-Glucosidase produced in CHO-cells.
I found three or four doctors working on Pompe's disease who had virtually no funding at all.
Pompe's disease is a hereditary defect causing fatal cardiomyopathy in children.
Use of immobilized antibodies in investigating acid [alpha]-glucosidase in urine in relation to Pompe's disease.
They have also had the energy to create The Children's Pompe Foundation, which has contributed money to important research on Pompe's disease.
Prenatal diagnosis of Pompe's disease (type II glycogenesis) in chorionic villus biopsy using maltose as a substrate.