About The Medical Condition Glycogen Storage Disease Type II, Adult
Find the definition of the medical term Glycogen Storage Disease Type II, Adult. Glycogen Storage Disease Type II, Adult defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Glycogen Storage Disease Type II, Adult
| Glycogen Storage Disease Type II, Adult Medical Condition |
|---|
What's The Definition Of The Medical Condition Glycogen Storage Disease Type II, Adult?
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
- Trophoblastic Neoplasms ‐ Trophoblastic growth, which may be gestational or nongestational…
- Acetohydroxy Acid Reductoisomerase ‐ An enzyme involved in the biosynthesis of isoleucine and valine.…
- Misoprostol, (11alpha,13E,16R)-Isomer ‐ A synthetic analog of natural prostaglandin E1. It produces a…
- Phobia ‐ Anxiety disorders in which the essential feature is persistent…
- Proton-Translocating ATPases, Bacterial ‐ Membrane-bound proton-translocating ATPases that serve two important…
- Apoenzymes ‐ The protein components of the enzyme minus any cofactors or prosthetic…
- Neck Dissections, Radical ‐ The most commonly performed major operation for head and neck…
- Activations, Amino Acid ‐ The first step of protein synthesis, whereby an amino acid reacts…
- Acupoints ‐ Designated locations along nerves or organ meridians for inserting…
- Deficiency Disease, Apolipoprotein B ‐ A disorder of lipid metabolism inherited as an autosomal recessive…