About The Medical Condition Pompes Disease
Find the definition of the medical term Pompes Disease. Pompes Disease defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Pompes Disease
Pompes Disease Medical Condition |
---|
What's The Definition Of The Medical Condition Pompes Disease?
An autosomal recessively inherited glycogen storage disease caused by GLUCAN 1,4-ALPHA-GLUCOSIDASE DEFICIENCY. Large amounts of GLYCOGEN accumulate in the LYSOSOMES of skeletal muscle (MUSCLE, SKELETAL); HEART; LIVER; SPINAL CORD; and BRAIN. Three forms have been described: infantile, childhood, and adult. The infantile form is fatal in infancy and presents with hypotonia and a hypertrophic cardiomyopathy (CARDIOMYOPATHY, HYPERTROPHIC). The childhood form usually presents in the second year of life with proximal weakness and respiratory symptoms. The adult form consists of a slowly progressive proximal myopathy. (From Muscle Nerve 1995;3:S61-9; Menkes,Textbook of Child Neurology, 5th ed, pp73-4)
|
More Medical Conditions
A | B | C | D | E | F | G | H | I | J | K | L | M | N | O | P | Q | R | S | T | U | V | W | X | Y | Z
Medical Conditions Definitions Of The Day
- Synthase, Leukotriene A ‐ An enzyme that catalyzes the oxidation of arachidonic acid to…
- CS1170 ‐ A semisynthetic cephamycin antibiotic with a broad spectrum of…
- IgM ‐ A class of immunoglobulin bearing mu chains (IMMUNOGLOBULINS,…
- Spectroscopy, Near-Infrared ‐ A noninvasive technique that uses the differential absorption…
- Medical Office Buildings ‐ Office and laboratory facilities constructed for the use of physicians…
- Preimplantation Diagnosis ‐ Determination of the nature of a pathological condition or disease…
- Swainsonine, (8 alpha,8a alpha)-Isomer ‐ An indolizidine alkaloid from the plant Swainsona canescens that…
- Diacylglycerol Cholinephosphotransferase ‐ An enzyme that catalyzes the synthesis of phosphatidylcholines…
- Destruction, Thermal ‐ High temperature destruction of waste by burning with subsequent…
- Intensifying Screen, Radiographic ‐ Screens which absorb the energy in the x-ray beam that has penetrated…