Pompe disease


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Pompe disease

Glycogen storage disease, type II, see there.
McGraw-Hill Concise Dictionary of Modern Medicine. © 2002 by The McGraw-Hill Companies, Inc.

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.
Medical Dictionary for the Health Professions and Nursing © Farlex 2012

Pompe disease

(pomp)
[Johann Cassianus Pompe, 20th-cent. Dutch physician]
Glycogen storage disease type II.
Medical Dictionary, © 2009 Farlex and Partners

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
Medical Eponyms © Farlex 2012

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
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References in periodicals archive ?
Avrobio is focused on the development of its investigational gene therapy, AVR-RD-01, in Fabry disease, as well as additional gene therapy programs in other lysosomal storage disorders including Gaucher disease, cystinosis and Pompe disease.
When Dickoy was diagnosed with Pompe disease, joining an organization more so leading one was far from her mind.
Glycogenosome accumulation in the arrector pili muscle in Pompe disease. Orphanet J Rare Dis 2014;9:17.
Caelan was diagnosed with nonclassic infantile Pompe disease - a genetic muscle weakness disease.
Originally described in 1932, Pompe disease (PD), also known as "glycogen storage disease type II (OMIM #232300)", is a rare autosomal recessive disorder characterized by progressive glycogen accumulation in cellular lysosomes ultimately leading to cellular damage.
Naming some genetic disorders, Dr Fareeduddin said that four patients of Gaucher disease and one of Pompe disease were treated at Indus Hospital.
Pompe disease is an autosomal recessive genetic disorder characterized by deficiency of the enzyme alpha-glucosidase.
[USPRwire, Thu Nov 02 2017] Pompe Disease - Pipeline Review, H2 2015 Summary Global Markets Direct s, Pompe Disease - Pipeline Review, H2 2015 , provides an overview of the Pompe Disease s therapeutic pipeline.
The committee will also discuss other conditions not on the Texas list, including Pompe disease, MPS-1 and X-ALD.
Pompe disease is a lysosomal storage disease that results in the buildup of glycogen-derived short polymers of glucose, particularly in skeletal muscle (1).
Doctors diagnosed her newborn son, Magglio, with Pompe disease, a rare and deadly genetic disorder that leads to a build-up of glycogen in the body.