Pompe disease


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Pompe disease

Glycogen storage disease, type II, see there.

gly·co·ge·no·sis type 2

(glī'kō-jĕ-nō'sis tīp)
Disorder due to lysosomal α-1,4-glucosidase deficiency, resulting in accumulation of excessive glycogen of normal chemical structure in heart, muscle, liver, and nervous system.
Synonym(s): Pompe disease.

Pompe disease

(pomp)
[Johann Cassianus Pompe, 20th-cent. Dutch physician]
Glycogen storage disease type II.

Pompe,

Johann C., 20th century Dutch physician.
Pompe disease - glycogenosis due to lysosomal alpha-1,4-glucosidase deficiency. Synonym(s): Pompe syndrome; type 2 glycogenosis
Pompe syndrome - Synonym(s): Pompe disease

Patient discussion about Pompe 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 disease
References in periodicals archive ?
Two special guests will join the set for the “The Brave Faces of Pompe Disease” and “Advocacy and Resources” segments: a patient with this mysterious and rare disease, and a father of a son living with Pompe Disease who became an advocate for the Pompe community, as well as the resources and community of support they became a part of.
Infantile-onset Pompe Disease Natural History Study Group.
New York state has been screening newborns for Krabbe disease by MS/MS since 2006 (13), and a research study of the application of the MS/MS-based enzyme assay for Pompe disease in the Austrian NBS program was recently published, with just over 10 000 newborn specimens (14).
The two youngest are born with the rare and degenerative Pompe disease, which weakens muscles and gradually causes the body to shut down.
However his world is turned upside down when the two youngest are born with the rare and degenerative Pompe disease, which weakens muscles and gradually causes the body to shut down.
Their offspring are John Jnr (Sam Hall), eight-year-old Megan (Meredith Droeger) and six-year-old Patrick (Diego Velazquez) and the two youngest were born with the rare and degenerative Pompe disease which weakens muscles and gradually causes the body to shut down.
But things change dramatically when doctors diagnose the youngest children Megan and Patrick with Pompe disease, a rare genetic disorder for which there is no treatment, since no company has bothered to spend the money needed to sponsor research.
Food and Drug Administration approval for a large-batch version of its Lumizyme drug for Pompe disease, a rare genetic disorder.
Myozyme is a treatment for Pompe disease, a rare disorder that interferes with muscle development and can cause deadly respiratory problems.
POMPE Disease is so rare there are currently just 25 children in the country with the condition.
Daisy is suffering from Pompe Disease, a genetic problem that affects her throat muscles, which means she has to be fed through a tube in her stomach four or five times daily.