Glycogen storage disease type II - Wikipedia - adult acid maltase

Category

Metabolic Myopathies - Acid maltase deficiency (Pompe disease) | Muscular Dystrophy Association adult acid maltase


Pompe's disease (acid maltase deficiency) classically affects infants and children, with a few sporadic cases occurring in adults. An adult patient initially had progressive muscular weakness, exertional dyspnea, diaphragmatic paralysis, and objective evidence of restrictive respiratory disease.Cited by: 22.

Acid maltase deficiency results from a defect in the gene for the acid maltase enzyme (also known as  acid alphaglu cosidase) that prevents the breakdown of glycogen (stored sugar). See  Causes/Inheritance  for more. What is the progression of acid maltase deficiency? This disease has its onset anywhere from infancy to adulthood.

Aug 31, 2018 · Adult Infantile acid maltase deficiency (Pompe disease) is the classic example of a metabolic myopathy and motor neuron disease that causes infantile hypotonia. This form of .

Mar 11, 1976 · Adult-onset acid maltase deficiency, a defect in glycogenolysis, is a disease presenting clinically as skeletal-muscle weakness in the third to the fifth decade.1 2 3 4 5 In the case reported Cited by: 80.