glycogenosis

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: 1, *232200, *232220, *232240; 2, *232300; 3, *232400; 4, *232500; 5, *232600; 6, *232700; 7, *232800]. SYN: dextrinosis, glycogen-storage disease.
- brancher deficiency g. SYN: brancher glycogen storage disease.
- generalized g. SYN: type 2 g..
- hepatophosphorylase deficiency g. SYN: type 6 g..
- type 1 g. g. due to glucose 6-phosphatase deficiency, resulting in accumulation of excessive amounts of glycogen of normal chemical structure, particularly in liver and kidney. SYN: Gierke disease, glucose-6-phosphatase hepatorenal g., von Gierke disease.
- type 2 g. g. due to lysosomal α-1,4-glucosidase deficiency, resulting in accumulation of excessive amounts of glycogen of normal chemical structure in heart, muscle, liver, and nervous system. SYN: generalized g., Pompe disease.
- type 3 g. g. due to amylo-1,6-glucosidase deficiency, resulting in accumulation of abnormal glycogen with short outer chains in liver and muscle. SYN: Cori disease, debranching deficiency limit dextrinosis, limit dextrinosis, Forbes disease.
- type 4 g. familial cirrhosis of the liver with storage of abnormal glycogen; g. due to deficiency of 1,4-α-glucan branching enzyme, resulting in accumulation of abnormal glycogen with long inner and outer chains in liver, kidney, muscle, and other tissues. SYN: Andersen disease.
- type 5 g. g. due to muscle glycogen phosphorylase deficiency, resulting in accumulation of glycogen of normal chemical structure in muscle. SYN: McArdle disease, McArdle syndrome, McArdle-Schmid-Pearson disease, myophosphorylase deficiency g..
- type 6 g. g. due to hepatic glycogen phosphorylase deficiency, resulting in accumulation of glycogen of normal chemical structure in liver and leukocytes. SYN: hepatophosphorylase deficiency g., Hers disease.
- type 7 g. phosphofructokinase deficiency of muscle resulting in muscle cramps and myoglobinuria on extreme exertion. The clinical picture resembles type 5 g..

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gly·co·ge·no·sis -'nō-səs n, pl -no·ses -.sēz GLYCOGEN STORAGE DISEASE

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gly·co·ge·no·sis (gli″ko-jə-noґsis) glycogen storage disease.

Medical dictionary. 2011.

Look at other dictionaries:

  • glycogenosis — glycogenosis. См. гликогенозы. (Источник: «Англо русский толковый словарь генетических терминов». Арефьев В.А., Лисовенко Л.А., Москва: Изд во ВНИРО, 1995 г.) …   Молекулярная биология и генетика. Толковый словарь.

  • glycogenosis — noun A metabolic disorder characterized by the inability to metabolize glycogen properly Syn: glycogen storage disease …   Wiktionary

  • glycogenosis — gly·co·ge·no·sis …   English syllables

  • glycogenosis — …   Useful english dictionary

  • brancher deficiency glycogenosis — glycogen storage disease, type IV …   Medical dictionary

  • generalized glycogenosis — glycogen storage disease, type II …   Medical dictionary

  • hepatophosphorylase deficiency glycogenosis — glycogen storage disease, type VI …   Medical dictionary

  • hepatorenal glycogenosis — glycogen storage disease, type I …   Medical dictionary

  • myophosphorylase deficiency glycogenosis — glycogen storage disease, type V …   Medical dictionary

  • гликогеноз — (glycogenosis; гликоген + оз; син. болезнь гликогеновая) общее название наследственных болезней углеводного обмена, характеризующихся избыточным накоплением гликогена в различных органах и тканях …   Большой медицинский словарь

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