About The Medical Condition Glycogen Storage Disease Type II, Infantile
Find the definition of the medical term Glycogen Storage Disease Type II, Infantile. Glycogen Storage Disease Type II, Infantile defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Glycogen Storage Disease Type II, Infantile
| Glycogen Storage Disease Type II, Infantile Medical Condition |
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What's The Definition Of The Medical Condition Glycogen Storage Disease Type II, Infantile?
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)
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