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Glycogen Storage Disease Type Ia (GSD Ia)
Breed: Maltese
Generic Phene Data
Breeds
Relevance Rating: There is moderate evidence or research available in this breed
General
Disease Name
Glycogen Storage Disease Type Ia (GSD Ia)
OMIA
418
Gene Name
G6PC
Mutation
c.363G>C
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 form I-a is it's generally associated with toy breeds.
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 form I-a is it's generally associated with toy breeds.
Published
Kishnani, P.S., Bao, Y., Wu, J.Y., Brix, A.E., Lin, J.L., Chen, Y.T.: Isolation and nucleotide sequence of canine glucose-6-phosphatase mRNA: identification of mutation in puppies with glycogen storage disease type Ia. Biochem Mol Med 61:168-77, 1997. Pubmed reference: 9259982.
Body/System/Process
Metabolic
OMIA Url
Inheritance
AR
HSP Test-Specific Data
Agrotis S.r.l.
GTP
GTP Name
Agrotis S.r.l.
Breed
OMIA
Gene Name
G-6-Pase
Mutation
c.363G>C
BioBank AS
GTP
GTP Name
BioBank AS
Breed
OMIA
Gene Name
G-6-Pase
Mutation
c.363G>C
Certagen GmbH
GTP
GTP Name
Certagen GmbH
Breed
OMIA
Gene Name
G-6-Pase
Mutation
c.363G>C
CMSCH
GTP
GTP Name
CMSCH
Breed
OMIA
Gene Name
G-6-Pase
Mutation
c.363G>C
DNA My Dog
GTP
GTP Name
DNA My Dog
Breed
OMIA
GTP Disease Name
TBA, Glycogenesis Ia
Gene Name
G-6-Pase
Mutation
c.363G>C
Nature of test
mutation test
GTP- or Breed-Specific Publications
Kishnani, P.S., Bao, Y., Wu, J.Y., Brix, A.E., Lin, J.L., Chen, Y.T.: Isolation and nucleotide sequence of canine glucose-6-phosphatase mRNA: identification of mutation in puppies with glycogen storag
Application in the Breed
Carriers may be bred to normal animals (N/gsd1a x N/N) . Offspring should be tested before breeding . No breeding of two carriers (N/gsd1a x N/gsd1a) If an affected animal (gsd1a/gsd1a) lives to reproduce. Liver, hyperglycemia, failure to thrive, and death
Inheritance
AR
This test is outsourced to:
Orivet
FCI Number
65
GTP Breed
Maltese
Genomia s.r.o
GTP
GTP Name
Genomia s.r.o
Breed
OMIA
GTP Disease Synonym
GSD Ia
Gene Name
G6PC
Mutation
c.363G>C
Mutation Comment
g.20138777C>G
INNO
GTP
GTP Name
INNO
Breed
OMIA
Gene Name
G-6-Pase
Mutation
c.363G>C
Laboratorios Labocor S.L.
GTP
GTP Name
Laboratorios Labocor S.L.
Breed
OMIA
Gene Name
G-6-Pase
Mutation
c.363G>C
Laboklin Gmbh & Co. KG
GTP
GTP Name
Laboklin Gmbh & Co. KG
Breed
OMIA
GTP Disease Name
TBA, Glycogenesis Ia
Gene Name
G-6-Pase
Mutation
c.363G>C
Nature of test
mutation test
FCI Number
65
Orivet Genetic Pet Care
GTP
GTP Name
Orivet Genetic Pet Care
Breed
OMIA
GTP Disease Name
TBA, Glycogenesis Ia
Gene Name
G-6-Pase
Mutation
c.363G>C
Nature of test
mutation test
GTP- or Breed-Specific Publications
Kishnani, P.S., Bao, Y., Wu, J.Y., Brix, A.E., Lin, J.L., Chen, Y.T.: Isolation and nucleotide sequence of canine glucose-6-phosphatase mRNA: identification of mutation in puppies with glycogen storag
Application in the Breed
Carriers may be bred to normal animals (N/gsd1a x N/N) . Offspring should be tested before breeding . No breeding of two carriers (N/gsd1a x N/gsd1a) If an affected animal (gsd1a/gsd1a) lives to reproduce. Liver, hyperglycemia, failure to thrive, and death
Inheritance
AR
FCI Number
65
GTP Breed
Maltese
Paw Print Genetics
GTP
GTP Name
Paw Print Genetics
Breed
OMIA
GTP Disease Name
TBA, Glycogenesis Ia
GTP Disease Synonym
von Gierke disease, Glycogenesis Ia
Gene Name
G-6-Pase
Mutation
c.363G>C
Nature of test
mutation test
FCI Number
65
GTP Breed
Maltese
PharmaDNA
GTP
GTP Name
PharmaDNA
Breed
OMIA
Gene Name
G-6-Pase
Mutation
c.363G>C
Progènes-ADN
GTP
GTP Name
Progenes ADN
Breed
OMIA
Gene Name
G-6-Pase
Mutation
c.363G>C
VHL Genetics
GTP
GTP Name
VHL Genetics
Breed
OMIA
Gene Name
G-6-Pase
Mutation
c.363G>C
Wisdom Panel - Kinship
GTP
GTP Name
Wisdom Panel - Kinship
Breed
OMIA
GTP Disease Name
TBA, Glycogenesis Ia
GTP Disease Synonym
von Gierke disease, Glycogenesis Ia
Gene Name
G-6-Pase
Mutation
c.363G>C
Nature of test
mutation test
GTP- or Breed-Specific Publications
Kishnani, P.S., Bao, Y., Wu, J.Y., Brix, A.E., Lin, J.L., Chen, Y.T.: Isolation and nucleotide sequence of canine glucose-6-phosphatase mRNA: identification of mutation in puppies with glycogen storag
Application in the Breed
Carriers may be bred to normal animals (N/gsd1a x N/N) . Offspring should be tested before breeding . No breeding of two carriers (N/gsd1a x N/gsd1a) If an affected animal (gsd1a/gsd1a) lives to reproduce. Liver, hyperglycemia, failure to thrive, and death
Inheritance
AR
FCI Number
65
GTP Breed
Maltese
Zoolyx
GTP
GTP Name
Zoolyx
Breed
OMIA
Gene Name
G-6-Pase
Mutation
c.363G>C
AnimaLabs
GTP
GTP Name
AnimaLabs
Breed
OMIA
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