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Glycogen Storage Disease Type II (GSD II)
Breed: Maltese
Generic Phene Data
Breeds
Relevance Rating: There is some evidence or research available for these breeds
General
Disease Name
Glycogen Storage Disease Type II (GSD II)
OMIA
419
Gene Name
GAA
Mutation
c.2237G>A
Test Type
Genetic Disease/Disorder
Details
Glycogen Storage Disease alters the enzyme glucose-6-phosphatase, a key step in the production of glucose, to be deficient. This leads to chronic low blood sugar, liver damage and premature death. Generalised symptoms of Glycogen Storage Disease in dogs includes weakness, chronic low blood sugar, collapse, lethargy, enlarged, liver anorexia. Age of onset from birth/puppyhood. Specific to Type II: pups vomit frequently, progressive muscle weakness and poor body condition, esophageal dilation and cardiac enlargement. Death before the age of two years.
Details 2
Glycogen Storage Disease alters the enzyme glucose-6-phosphatase, a key step in the production of glucose, to be deficient. This leads to chronic low blood sugar, liver damage and premature death. Generalised symptoms of Glycogen Storage Disease in dogs includes weakness, chronic low blood sugar, collapse, lethargy, enlarged, liver anorexia. Age of onset from birth/puppyhood. Specific to Type II: pups vomit frequently, progressive muscle weakness and poor body condition, esophageal dilation and cardiac enlargement. Death before the age of two years.
Published
Seppala, E.H., Reuser, A.J., Lohi, H. : A nonsense mutation in the acid ?-glucosidase gene causes Pompe disease in Finnish and Swedish Lapphunds. PLoS One 8:e56825, 2013. Pubmed reference: 23457621. DOI: 10.1371/journal.pone.0056825.
Body/System/Process
Metabolic
OMIA Url
Inheritance
AR
Breed Specific Info
Researched Breeds
Finnish Lapphund, Swedish Lapphund
HSP Test-Specific Data
Agrotis S.r.l.
GTP
GTP Name
Agrotis S.r.l.
Breed
OMIA
Gene Name
GAA
Mutation
c.2237G>A
BioBank AS
GTP
GTP Name
BioBank AS
Breed
OMIA
Gene Name
GAA
Mutation
c.2237G>A
Certagen GmbH
GTP
GTP Name
Certagen GmbH
Breed
OMIA
Gene Name
GAA
Mutation
c.2237G>A
CMSCH
GTP
GTP Name
CMSCH
Breed
OMIA
Gene Name
GAA
Mutation
c.2237G>A
DNA My Dog
GTP
GTP Name
DNA My Dog
Breed
OMIA
GTP Disease Name
Pompe Disease, TBA, Glycogenesis II
Gene Name
GAA
Mutation
c.2237G>A
Nature of test
mutation test
GTP- or Breed-Specific Publications
Seppälä, E.H., Reuser, A.J., Lohi, H. : A nonsense mutation in the acid ?-glucosidase gene causes Pompe disease in Finnish and Swedish Lapphunds. PLoS One 8:e56825, 2013. Pubmed reference: 2345762
Application in the Breed
Carriers may be bred to normal animals (N/gsd2 x N/N) . Offspring should be tested before breeding . No breeding of two carriers (N/gsd2 x N/gsd2) nor of affected dogs (gsd2/gsd2). Pups vomit frequently, progressive muscle weakness and poor body condition, esophageal dilation and cardiac enlargement. Death before the age of two years.
Inheritance
AR
This test is outsourced to:
Orivet
FCI Number
65
GTP Breed
Maltese
INNO
GTP
GTP Name
INNO
Breed
OMIA
Gene Name
GAA
Mutation
c.2237G>A
Laboratorios Labocor S.L.
GTP
GTP Name
Laboratorios Labocor S.L.
Breed
OMIA
Gene Name
GAA
Mutation
c.2237G>A
Orivet Genetic Pet Care
GTP
GTP Name
Orivet Genetic Pet Care
Breed
OMIA
GTP Disease Name
Pompe Disease, TBA, Glycogenesis II
Gene Name
GAA
Mutation
c.2237G>A
Nature of test
mutation test
GTP- or Breed-Specific Publications
Seppälä, E.H., Reuser, A.J., Lohi, H. : A nonsense mutation in the acid ?-glucosidase gene causes Pompe disease in Finnish and Swedish Lapphunds. PLoS One 8:e56825, 2013. Pubmed reference: 2345762
Application in the Breed
Carriers may be bred to normal animals (N/gsd2 x N/N) . Offspring should be tested before breeding . No breeding of two carriers (N/gsd2 x N/gsd2) nor of affected dogs (gsd2/gsd2). Pups vomit frequently, progressive muscle weakness and poor body condition, esophageal dilation and cardiac enlargement. Death before the age of two years.
Inheritance
AR
FCI Number
65
GTP Breed
Maltese
PharmaDNA
GTP
GTP Name
PharmaDNA
Breed
OMIA
Gene Name
GAA
Mutation
c.2237G>A
Progènes-ADN
GTP
GTP Name
Progenes ADN
Breed
OMIA
Gene Name
GAA
Mutation
c.2237G>A
VHL Genetics
GTP
GTP Name
VHL Genetics
Breed
OMIA
Gene Name
GAA
Mutation
c.2237G>A
Zoolyx
GTP
GTP Name
Zoolyx
Breed
OMIA
Gene Name
GAA
Mutation
c.2237G>A
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