About The Medical Condition Infantile Glycogen Storage Disease Type II
Find the definition of the medical term Infantile Glycogen Storage Disease Type II. Infantile Glycogen Storage Disease Type II defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Infantile Glycogen Storage Disease Type II
| Infantile Glycogen Storage Disease Type II Medical Condition |
|---|
What's The Definition Of The Medical Condition Infantile Glycogen Storage Disease 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
- NADH Diaphorase ‐ A flavoprotein that catalyzes the reduction of lipoamide by NADH…
- Salazopyrin ‐ A drug that is used in the management of inflammatory bowel diseases.…
- Rite, Funeral ‐ Those customs and ceremonies pertaining to…
- Acid, Triiodobenzoic ‐ Triiodo-substituted derivatives of…
- Selenious Acid ‐ A selenium compound used as a source of SELENIUM, especially…
- Venom, Arachnid ‐ Venoms of arthropods of the order Araneida of the Arachnida.…
- Bladder, Atonic Neurogenic ‐ Dysfunction of the urinary bladder due to disease of the central…
- HPD-ECGF ‐ The enzyme catalyzing the transfer of 2-deoxy-D-ribose from thymidine…
- Anomies ‐ A state of social disorganization and demoralization in society…
- Syndrome, Low T3 ‐ Abnormalities in thyroid hormone and thyroid-stimulating hormone…