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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)
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.

Breed Specific Data

Zoolyx

GTP
GTP Name
Zoolyx
Breed
Gene Name
G-6-Pase
Mutation
c.363G>C

Wisdom Health (formerly Mars Veterinary)

GTP Name
Wisdom Health (formerly Mars Veterinary)
Breed
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

VHL Genetics

GTP Name
VHL Genetics
Breed
Gene Name
G-6-Pase
Mutation
c.363G>C

Progènes-ADN

GTP Name
Progenes ADN
Breed
Gene Name
G-6-Pase
Mutation
c.363G>C

PharmaDNA

GTP
GTP Name
PharmaDNA
Breed
Gene Name
G-6-Pase
Mutation
c.363G>C

Paw Print Genetics

GTP Name
Paw Print Genetics
Breed
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

Orivet Genetic Pet Care

GTP Name
Orivet Genetic Pet Care
Breed
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

Laboklin Gmbh & Co. KG

GTP Name
Laboklin Gmbh & Co. KG
Breed
GTP Disease Name
TBA, Glycogenesis Ia
Gene Name
G-6-Pase
Mutation
c.363G>C
Nature of test
mutation test
FCI Number
65

Laboratorios Labocor S.L.

GTP Name
Laboratorios Labocor S.L.
Breed
Gene Name
G-6-Pase
Mutation
c.363G>C

INNO

GTP
GTP Name
INNO
Breed
Gene Name
G-6-Pase
Mutation
c.363G>C

Genoscoper Laboratories Oy

GTP Name
Genoscoper Laboratories Oy
Breed
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

DNA My Dog

GTP Name
DNA My Dog
Breed
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

CMSCH

GTP
GTP Name
CMSCH
Breed
Gene Name
G-6-Pase
Mutation
c.363G>C

Certagen GmbH

GTP Name
Certagen GmbH
Breed
Gene Name
G-6-Pase
Mutation
c.363G>C

CAG GmbH Center for Animal Genetics

GTP Name
Center for Animal Genetics
Breed
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

BioBank AS

GTP Name
BioBank AS
Breed
Gene Name
G-6-Pase
Mutation
c.363G>C

Agrotis S.r.l.

GTP Name
Agrotis S.r.l.
Breed
Gene Name
G-6-Pase
Mutation
c.363G>C
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