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Glycogen Storage Disease Type II (GSD II)

Breed: Maltese

Generic Phene Data

Breeds

Relevance Rating: The test is unknown, there is no evidence (i.e. research) available, or it has not been evaluated yet. These tests may or may not be meaningful for these breeds

General

Disease Name
Glycogen Storage Disease Type II (GSD II)
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.

Breed Specific Data

Agrotis S.r.l.

GTP Name
Agrotis S.r.l.
Breed
Gene Name
GAA
Mutation
c.2237G>A

BioBank AS

GTP Name
BioBank AS
Breed
Gene Name
GAA
Mutation
c.2237G>A

Certagen GmbH

GTP Name
Certagen GmbH
Breed
Gene Name
GAA
Mutation
c.2237G>A

CMSCH

GTP
GTP Name
CMSCH
Breed
Gene Name
GAA
Mutation
c.2237G>A

DNA My Dog

GTP Name
DNA My Dog
Breed
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
Gene Name
GAA
Mutation
c.2237G>A

Laboratorios Labocor S.L.

GTP Name
Laboratorios Labocor S.L.
Breed
Gene Name
GAA
Mutation
c.2237G>A

Orivet Genetic Pet Care

GTP Name
Orivet Genetic Pet Care
Breed
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
Gene Name
GAA
Mutation
c.2237G>A

Progènes-ADN

GTP Name
Progenes ADN
Breed
Gene Name
GAA
Mutation
c.2237G>A

VHL Genetics

GTP Name
VHL Genetics
Breed
Gene Name
GAA
Mutation
c.2237G>A

Zoolyx

GTP
GTP Name
Zoolyx
Breed
Gene Name
GAA
Mutation
c.2237G>A
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