About The Medical Condition Glycogenosis 2
Find the definition of the medical term Glycogenosis 2. Glycogenosis 2 defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Glycogenosis 2
Glycogenosis 2 Medical Condition |
---|
What's The Definition Of The Medical Condition Glycogenosis 2?
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
- Basic Polypeptide, Cardiotoxin-Like ‐ Most abundant proteins in cobra (Naja of the Elapids) venom;…
- Gramoderm ‐ A group of antibiotics (ANTIBIOTICS, PEPTIDE) from Bacillus brevis.…
- Zona ‐ An acute infectious, usually self-limited, disease believed to…
- Beta Disease, Broad ‐ A rather uncommon form of familial hyperlipemia characterized…
- Dentistry, Occupational ‐ The branch of dentistry concerned with maintaining oral health…
- Prairie Dogs ‐ A family of the order Rodentia which contains 49 genera. Some…
- Erythromycin Propionate Monododecyl Sulfate ‐ A macrolide antibiotic, produced by Streptomyces erythreus. It…
- Antigenic Variability ‐ Change in the surface antigen of a microorganism. There are two…
- Replication, Autonomous ‐ The process by which a DNA molecule is…
- Folding, Globular Protein ‐ A rapid biochemical reaction involved in the formation of proteins.…