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Sample text

However, there is a progressive weakening of the skeletal and respiratory muscles. The observed muscle weakness in childhood acid maltase deficiency affected individuals gradually progresses from the muscles of the trunk to the muscles of the arms and the legs. Glycogen accumulation is observed primarily in the muscle tissues. Adult (type c) acid maltase deficiency is characterized by fatigue in younger affected individuals and by weakness of the muscles of the trunk in older affected individuals.

Individuals with these mutations will invariably be affected with infantile (type a) acid maltase deficiency. prevent the production of acid maltase and lead to infantile (type a) acid maltase deficiency. The exact mutations responsible for the other 30% of the adult (type c) and the remainder of the childhood (type b) acid maltase deficiency cases have not yet been determined. Demographics Acid maltase deficiency is observed in approximately 1 in every 100,000 live births. In 2000, it was estimated that between 5,000 and 10,000 people were living somewhere in the developed world with a diagnosed case of acid maltase deficiency.

Individuals affected with acid maltase deficiency have extremely high serum CK levels. Those affected with GALE ENCYCLOPEDIA OF GENETIC DISORDERS KEY TERMS Acid maltase—The enzyme that regulates the amount of glycogen stored in muscle cells. When too much glycogen is present, acid maltase is released to break it down into waste products. Acidosis—A condition of decreased alkalinity resulting from abnormally high acid levels (low pH) in the blood and tissues. Usually indicated by sickly sweet breath, headaches, nausea, vomiting, and visual impairments.

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