glycogenosis(redirected from glycogenosis type I)
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generalized glycogenosis Pompe's disease.
hepatorenal glycogenosis Gierke's disease.
myophosphorylase deficiency glycogenosis McArdle disease.
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].
glycogenosis/gly·co·ge·no·sis/ (-jĕ-no´sis) glycogen storage disease.
n. pl. glycogeno·ses (-sēz′)
glycogenosisGlycogen storage disease, see there.
Any glycogen deposition disease 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.
An alternate term for glycogen storage disease. The plural form is glycogenoses.
Mentioned in: Glycogen Storage Diseases
A glycogen deposition disease characterized by accumulation of glycogen of normal or abnormal chemical structure in tissue; may be enlargement of the liver, heart, or striated muscle, including the tongue.
pl. glycogenoses; any genetically determined disorder of glycogen metabolism, marked by abnormal storage of glycogen in the tissues of the body. See also glycogen storage disease.
bovine generalized glycogenosis
an inherited glycogen storage disease of Shorthorn and Brahman cattle resembling glycogenosis type II (Pompe's disease) of humans, caused by a deficiency of α-1,4-glucosidase. Widespread accumulation of glycogen occurs in the nervous system and muscles, leading to poor growth, incoordination, muscle weakness and eventually recumbency. There is also cardiomyopathy and often left-sided heart failure. Onset is at 2 to 3 months of age with death at 3 to 5 months. A late onset form with a short clinical course is described in 8 to 9 month old Brahman cattle.
glycogenosis type I
in humans, a deficiency of the hepatic enzyme glucose-6-phosphatase resulting in liver and kidney involvement, with hepatomegaly, hypoglycemia, hyperuricemia and gout. A similar condition has been observed in young dogs with hypoglycemia that does not respond to glucagon. Called also Gierke's disease or von Gierke's disease.
glycogenosis type II
see bovine generalized glycogenosis (above). Also reported in sheep, cats, dogs and quail. Called also Pompe's disease.
glycogenosis type III
an inherited deficiency of amylo-1,6-glucosidase causing neurological deterioration, hepatomegaly and retarded growth in German shepherd dogs from an early age. Called also Cori's disease, Forbes' disease, limit dextrinosis.
glycogenosis type IV
an inherited deficiency of glycogen branching enzyme activity resulting in storage of abnormal glycogen, especially in the liver and spleen. Reported in Norwegian forest cats. Called also Andersen disease, amylopectinosis.
glycogenosis type V
an inherited deficiency of myophosphorylase which results in muscle cramping with exercise. Reported in Charolais calves. Called also McArdle disease.
glycogenosis type VII
see phosphofructokinase 1 deficiency.