About The Medical Condition Infantile Glycogen Storage Disease Type II

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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 Defined & Explained
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)

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