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
- Phosphates, Mannitol ‐ Phosphoric acid esters of…
- Hemorrhagic Fevers, Crimean ‐ A severe, often fatal disease in humans caused by the Crimean-Congo…
- Proteins, NS ‐ Viral proteins that are coded by nonstructural genes and usually…
- Jun B Proteins ‐ Cellular DNA-binding proteins encoded by the c-jun genes (GENES,…
- Salivation ‐ The secretion of saliva which serves to moisten and soften food…
- Venom, Octopus ‐ Venoms from mollusks, including the Conus and Octopus species.…
- Gypsies ‐ Ethnic group coming originally from India and entering Europe…
- Cardioverter-Defibrillator, Implantable ‐ Implantable devices which continuously monitor the electrical…
- Pentoxyresorufin O-Dealkylase ‐ A major cytochrome P-450 enzyme which is inducible by phenobarbital…
- Fetal Tissue Donation ‐ Transference of fetal tissue between individuals of the same…