Pompe's disease


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Related to Pompe's disease: glycogen storage disease, von Gierke's disease, Cori's disease, Forbes disease, McArdle disease, Tay Sachs disease

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.
They have also had the energy to create The Children's Pompe Foundation, which has contributed money to important research on Pompe's disease.
Pompe's disease is a hereditary defect causing fatal cardiomyopathy in children.
In this study, under management of the Genzyme-Pharming Alliance LLC, the safety and efficacy of cell-derived recombinant human alpha-Glucosidase is investigated in patients suffering from the classical infantile form of Pompe's disease.
The construction of the manufacturing facility in Geel, Belgium, for rabbit milk based biopharmaceuticals, among which human alpha-Glucosidase for Pompe's disease is developing according to plan.
7 million in Q1 1998 reflecting, amongst other factors, the continued development of human alpha-Glucosidase for the treatment of Pompe's disease.
Pompe's disease is a hereditary lethal muscle disorder for which no current therapy exists and that afflicts between 5,000 and 10,000 patients in the western world.
We are eagerly looking forward to reviewing the efficacy data of this Phase II study for Pompe's disease, a disease for which there are no currently approved treatments.