About The Medical Condition Acid Maltase Deficiency Disease
Find the definition of the medical term Acid Maltase Deficiency Disease. Acid Maltase Deficiency Disease defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Acid Maltase Deficiency Disease
| Acid Maltase Deficiency Disease Medical Condition |
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What's The Definition Of The Medical Condition Acid Maltase Deficiency Disease?
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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