About The Medical Condition Glycogenosis Type IIs
Find the definition of the medical term Glycogenosis Type IIs. Glycogenosis Type IIs defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Glycogenosis Type IIs
| Glycogenosis Type IIs Medical Condition |
|---|
What's The Definition Of The Medical Condition Glycogenosis Type IIs?
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
- Uridine Phosphorylase ‐ An enzyme that catalyzes the transfer of ribose from uridine…
- Disease, Talfan ‐ A picornavirus infection producing symptoms similar to poliomyelitis…
- Metatarsal Bones ‐ The five long bones of the METATARSUS articulating with the TARSAL…
- Disorder, Posttraumatic Stress ‐ Anxiety disorders manifested by the development of characteristic…
- Dimethylphenylene Bis-Thioallophanate ‐ Nematocide used in livestock; also has fungicidal…
- Blood Platelet Count ‐ A count of the number of platelets per unit volume in a sample…
- Arthrogryposis ‐ Persistent flexure or contracture of a joint. (Dorland, 27th…
- Carboxypeptidase, Enkephalin Dipeptidyl ‐ Enzyme that is a major constituent of kidney brush-border membranes…
- Device Expulsions, Intrauterine ‐ Spontaneous loss of intrauterine devices from…
- Lateral Ligament, Ankle ‐ There are two lateral ligaments of the ankle - internal and external.…