About The Medical Condition Glycogenosis Type II
Find the definition of the medical term Glycogenosis Type II. Glycogenosis Type II defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Glycogenosis Type II
| Glycogenosis Type II Medical Condition |
|---|
What's The Definition Of The Medical Condition Glycogenosis Type II?
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
- Religious Belief ‐ A set of beliefs concerning the nature, cause, and purpose of…
- Cardiac Ruptures ‐ Laceration or tearing of the walls of the heart, of the interatrial…
- Tyrosine Hydroxylase ‐ An enzyme that catalyzes the conversion of L-tyrosine, tetrahydrobiopterin,…
- Achondroplasia ‐ An autosomal dominant disorder that is the most frequent form…
- Ticks ‐ Blood-sucking acarid parasites of the order Ixodida comprising…
- Benign Hepatomas ‐ A benign epithelial tumor of…
- Deficiency, Vitamin B6 ‐ A nutritional condition produced by a deficiency of VITAMIN B…
- Hyposensitization Therapies ‐ Immunosuppression by the administration of increasing doses of…
- Psychological Models ‐ Theoretical representations that simulate psychological processes…
- Anhydrous Tolmetin Sodium ‐ A non-steroidal anti-inflammatory agent (ANTI-INFLAMMATORY AGENTS,…