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
- Dental Prosthesis, Surgical ‐ Biocompatible materials placed into (endosseous) or onto (subperiosteal)…
- Baclofen Receptor ‐ Cell surface proteins which bind GAMMA-AMINOBUTYRIC ACID and…
- Ligases, Acid-Amino-Acid ‐ Enzymes that catalyze the joining of an acid and an amino acid…
- Density, Cell ‐ A count of the number of cells of a specific kind, usually measured…
- Optic Nerve ‐ The 2nd cranial nerve. The optic nerve conveys visual information…
- Deoxyribonucleoproteins ‐ Proteins conjugated with deoxyribonucleic acids (DNA) or specific…
- Acute Intermittent Porphyrias ‐ A form of hepatic porphyria (PORPHYRIA, HEPATIC) characterized…
- Mirror Writing ‐ Dominance of one cerebral hemisphere over the other in cerebral…
- Dental Soldering ‐ The joining of pieces of metal through the use of an alloy which…
- Rimantadine Hydrochloride ‐ An RNA synthesis inhibitor that is used as an antiviral agent…