About The Medical Condition Generalized Glycogenosis
Find the definition of the medical term Generalized Glycogenosis. Generalized Glycogenosis defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Generalized Glycogenosis
| Generalized Glycogenosis Medical Condition |
|---|
What's The Definition Of The Medical Condition Generalized Glycogenosis?
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
- Surgical Plug ‐ Hand-held tools or implements used by health professionals for…
- Surgeries, Embryoscopic ‐ Endoscopic examination, therapy or surgery of the fetus and amniotic…
- Models, Binomial ‐ Statistical formulations or analyses which, when applied to data…
- Fistulas, Tracheoesophageal ‐ Abnormal communication between the esophagus and the trachea,…
- Nutrition Index ‐ The science of food, the nutrients and other substances contained…
- Murine Gastroenteritis Virus ‐ A species of the CORONAVIRUS genus causing hepatitis in mice.…
- Enprostil, (1S-(1alpha(S*),2beta(1E,3R*),3alpha))-Isomer ‐ A synthetic PGE2 analog that has an inhibitory effect on gastric…
- Spina Bifida ‐ Congenital defects of closure of one or more vertebral arches,…
- Systems, Laboratory Information ‐ Information systems, usually computer-assisted, designed to store,…
- Rosenthal-Melkerson Syndrome ‐ An idiopathic syndrome characterized by one or more of the following;…