glycogenosis


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glycogenosis

 [gli″ko-jĕ-no´sis]
generalized glycogenosis Pompe's disease.
hepatorenal glycogenosis Gierke's disease.
myophosphorylase deficiency glycogenosis McArdle disease.

gly·co·ge·no·sis

(glī'kō-jĕ-nō'sis),
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.

glycogenosis

(glī′kə-jĕ-nō′sĭs)
n. pl. glycogeno·ses (-sēz′)

glycogenosis

Glycogen storage disease, see there.

gly·co·ge·no·sis

(glī'kō-jĕ-nō'sis)
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.
Synonym(s): dextrinosis.

Glycogenosis

An alternate term for glycogen storage disease. The plural form is glycogenoses.

gly·co·ge·no·sis

(glī'kō-jĕ-nō'sis)
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.

glycogenosis

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.
References in periodicals archive ?
In general, a numbering system from 0 to XII has been accepted for these disorders; additionally, these can also be classified according to the affected organ and the clinical manifestations in hepatic and muscular glycogenosis (1-4).
With these findings, type I glycogenosis is suspected and this led to recommending a fractioned diet (small, frequent feedings) supplemented with cornstarch before bedtime.
Glycogenosis and overexpression of proteins affected by the IR in preneoplastic foci are generalized responses that have been reported to be induced by a variety of agents.
Overexpression of insulin receptor substrate-1 emerges early in hepatocarcinogenesis and elicits preneoplastic hepatic glycogenosis.
Also called: Glycogenosis type 2, Pompe's disease (infantile form), lysosomal storage disease
Also called: Cori's or Forbes' disease, glycogenosis type 3
Nichols RC, Rudolphi O, Ek B, et al: Glycogenosis type VII (Tarui disease) in a Swedish family: two novel mutations in muscle phosphofructokinase gene (PFK-M) resulting in intron retentions.
Persistent elevation of transaminases as the presenting finding in an adolescent with an unsuspected muscle glycogenosis.
org 1,2,3,5,6,8 HEPATIC DUCTULAR HYPOPLASIA, SYNDROMATIC See: Alagille Syndrome HEPATOPHOSPHORYLASE DEFICIENCY GLYCOGENOSIS See: Glycogen Storage Diseases; Muscular Dystrophy HEREDITARY KIDNEY DISEASES See: Kidney Diseases, Hereditary HEREDITARY LEPTOCYTOSIS See: Cooley Anemia HEREDITARY NONPOLYPOSIS COLORECTAL CANCER See: Colon Cancer, Hereditary HERMANSKY-PUDLAK SYNDROME See also: Albinism & Hypopigmentation; Visual Impairments Hermansky-Pudlak Syndrome Network Inc.
org 1,2,4,6,8; worldwide referrals, guide for travelers HEMORRHAGIC NODULAR PURPURA See: Fabry Disease HEPATIC DUCTULAR HYPOPLASIA, SYNDROMATIC See: Alagille Syndrome HEPATOPHOSPHORYLASE DEFICIENCY GLYCOGENOSIS See: Glycogen Storage Diseases; Muscular Dystrophy HEREDITARY KIDNEY DISEASES See: Kidney Diseases, Hereditary HEREDITARY LEPTOCYTOSIS See: Cooley Anemia HERMANSKY-PUDLAK SYNDROME See also: Albinism & Hypopigmentation; Visual Impairments Hermansky-Pudlak Syndrome Network Inc.
org 1,2,4,8,8; worldwide referrals, guide for travelers HEMORRHAGIC NODULAR PURPURA See: Fabry Disease HEPATIC DUCTULAR HYPOPLASIA, SYNDROMATIC See: Alagille Syndrome HEPATOLENTICULAR DEGENERATION See: Wilson Disease HEPATOPHOSPHORYLASE DEFICIENCY GLYCOGENOSIS See: Glycogen Storage Diseases; Muscular Dystrophy HEREDITARY KIDNEY DISEASES See: Kidney Diseases, Hereditary HEREDITARY LEPTOCYTOSIS See: Cooley Anemia HERMANSKY-PUDLAK SYNDROME See also: Albinism & Hypopigmentation; Visual Impairments Hermansky-Pudlak Syndrome Network Inc.