About The Medical Condition Deficiency Disease, Lysosomal alpha-1,4-Glucosidase

ClusterMed
  1. ClusterMed.info
  2. Medical Conditions
  3. D Illnesses And Diseases
  4. De
  5. Deficiency Disease, Lysosomal alpha-1,4-Glucosidase

Find the definition of the medical term Deficiency Disease, Lysosomal alpha-1,4-Glucosidase. Deficiency Disease, Lysosomal alpha-1,4-Glucosidase defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.

Deficiency Disease, Lysosomal alpha-1,4-Glucosidase

Deficiency Disease, Lysosomal alpha-1,4-Glucosidase Medical Condition Defined & Explained
Deficiency Disease, Lysosomal alpha-1,4-Glucosidase Medical Condition

What's The Definition Of The Medical Condition Deficiency Disease, Lysosomal alpha-1,4-Glucosidase?

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