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glycogenosis

Pronunciation: gli'ko-je-no'sis

Definition: Any of the glycogen deposition diseases characterized by accumulation of glycogen of normal or abnormal chemical structure in tissue; there may be enlargement of the liver, heart, or striated muscle, including the tongue, with progressive muscular weakness. Seven types (Cori classification) are recognized, depending on the enzyme deficiency involved, all of autosomal recessive inheritance, but with a different gene for each enzyme deficiency. [MIM designations: I, *232200, *232220, *232240; II, *232300; III, *232400; IV, *232500; V, *232600; VI, *232700; VII, *232800].

Synonym(s): dextrinosis, glycogen-storage disease

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© Copyright 2018 Wolters Kluwer. All Rights Reserved. Review date: Sep 19, 2016.

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