Infantile and late onset form of generalised glycogenosis type ii in cattle

Howell, John C.; Dorling, P. R.; Cook, R. D.; Robinson, Wayne F.; Bradley, Sarah; Gawthorne, J. M.

doi:10.1002/path.1711340403

Cited by 32 publications

(22 citation statements)

References 18 publications

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“…It is of note that respiratory insufficiency has been described in the dog model of GSDII, and cardiomegaly is a characteristic feature of all animal models with early-onset disease. 14,15,18 The most detailed reports are of dog, quail, and sheep. 14,16,19,20 The common denominator is a critical decline of the animal's condition due to generalized muscle weakness and probably cardiac insufficiency.…”

Section: Skeletal Muscle Involvementmentioning

confidence: 99%

Pathological features of glycogen storage disease type II highlighted in the knockout mouse model

et al. 1999

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Glycogen storage disease type II (GSDII; Pompe's disease) is an autosomal recessive disease caused by lysosomal α‐glucosidase deficiency. Skeletal muscle weakness is the most conspicuous clinical symptom of patients suffering from GSDII and skeletal muscle also is prominently involved in the knockout mouse model of this disease. Thus far, however, little detailed information has been published on the pathological changes in other mouse tissues. This paper aims to provide these data and gives a record of the clinical course of the mouse model over a 2‐year period. Four‐month‐old affected mice perform worse in a running wheel than their unaffected littermates, but do not yet display other clear signs of disease. The lysosomal glycogen storage, already evident at birth, becomes more severe in time, leading to muscle wasting by 9–10 months of age and then limb girdle weakness and kyphosis. The disease does not markedly shorten the animal's life span despite the serious tissue pathology, which is not limited to heart and skeletal muscle, but is also seen in the smooth muscle of blood vessels and of the respiratory, digestive, and urogenital tracts. In addition, the mice have lysosomal glycogen storage in the liver, kidney, spleen, and salivary gland; in Schwann cells of the peripheral nerves, and in a subset of neurons in the central nervous system. By pathological criteria, the knockout mouse model parallels the human infantile form of GSDII and is attractive for studying the possible reversal of tissue pathology and symptomatology under different therapeutic regimes. Copyright © 1999 John Wiley & Sons, Ltd.

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Section: Skeletal Muscle Involvementmentioning

confidence: 99%

Pathological features of glycogen storage disease type II highlighted in the knockout mouse model

et al. 1999

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“…After cessation of the Acarbose treatment, the condition is slowly reversible. Enzymatic studies were not performed in the treated animals, but Acarbose is a known competitive (Schmidt et al, 1977) inhibitor of intestinal ~- Bardens, 1966Erickson et al, 1968Gluecksohn-Waelsch and Cori, 1970;Trigg and Gluecksohn-Waelsch, 1973;Thorndike et al, 1973;Gluecksohn-Waelsch et al, 1974Thaler et al, 1976;Garland et al, 1976;Gluecksohn-Waelsch, 1979Richards et al, 1977Jolly et al, 1977;Cook et al, 1978Cook et al, , 1980Edwards and Richards, 1979;Dorling et aL, t981;Howell et al, 1981O'Sullivan et al, 1981Manktelov and Harttey, 1975 Lyon and Porter, 1962, 1963Lyon et al, 1967;Hornbrook and Lyon, 1970;Gross and…”

Section: Spontaneously Occurring Gsd-like Conditionsmentioning

confidence: 99%

Glycogen storage diseases in animals and their potential value as models of human disease

Walvoort

1982

J of Inher Metab Disea

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Glycogen storage diseases (GSD) are inborn errors of glycogen metabolism. Of the eight human GSD types in which the enzymatic deficiency has been identified, spontaneous animal counterparts have been reported for GSD I (glucose-6-phosphatase deficiency) in the mouse, for GSD II (acid alpha-glucosidase deficiency) in the dog, in cattle and in the quail, for GSD III (debrancher enzyme deficiency) in the dog and for GSD VIII (phosphorylase kinase deficiency) in the rat and the mouse. Experimentally induced GSD-like conditions have been described in the rat (Acarbose-induced GSD II-like conditions, iodoacetate-induced symptoms of myophosphorylase (GSD V) and myophosphofructokinase (GSD VII) deficiency) and the chicken (ochratoxin A-induced symptoms of cyclic AMP-dependent protein kinase deficiency). Enzymatic defects that are typical of the human GSD types have not been clearly identified in the induced animal conditions. The homology of animal and human GSD types is discussed. It is concluded that clinical, pathogenic and therapeutic studies of GSD may benefit from the use of animal models. For genetic studies of human GSD these models may prove to be of limited value, as the picture of several human GSD types is already obscured by genetic heterogeneity.

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“…Vacuolation of neurons, kidneys, thyroid and retinal cells has also been observed (Wisselaar et al, 1993). In cattle, the enzyme de¢cit can be demonstrated in muscle, lymphocytes (Howell et al, 1981) and liver (O'Sullivan et al, 1981).…”

Section: Introductionmentioning

confidence: 94%

Lectin-Histochemistry: Glycogenosis in Cattle

et al. 2006

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Ten out of 47 calves that were born in a small Brahman herd from southern Brazil developed progressive muscular weakness and tremors, lethargy and poor body condition. Necropsy was performed on three affected animals. The only gross lesion detected was paleness of the muscles of the trunk and limbs. Multiple cytoplasm vacuoles located in different tissues were the principal microscopic lesions. Vacuoles were particularly evident in skeletal muscles and myocardium. PAS-positive granules were numerous in skeletal muscle fibres and Purkinje fibres of the myocardium, but were also observed in the neurons of the brain and spinal cord, and in the vascular smooth muscle fibres from all the examined tissues. Pretreatment with diastase completely abolished the PAS reactivity. The vacuoles reacted strongly to Griffonia simplicifolia II and Concanavalia ensiformes lectins, whose biding pattern has been reported as useful for demonstration of glycogen. Examination of the electron micrographs revealed that glycogen was free within the cytoplasm or accumulated in membrane-bound granules of several tissues, especially in striated muscle, liver and neurons of the CNS. These findings were consistent with generalized glycogenosis.

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Infantile and late onset form of generalised glycogenosis type ii in cattle

Cited by 32 publications

References 18 publications

Pathological features of glycogen storage disease type II highlighted in the knockout mouse model

Pathological features of glycogen storage disease type II highlighted in the knockout mouse model

Glycogen storage diseases in animals and their potential value as models of human disease

Lectin-Histochemistry: Glycogenosis in Cattle

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