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Pyruvate Dehydrogenase Deficiency
Breed: Clumber Spaniel
Generic Phene Data
Breeds
Relevance Rating: There is some evidence or research available for these breeds
GTPs
General
Disease Name
Pyruvate Dehydrogenase Deficiency
OMIA
1406
Gene Name
PDP1
Mutation
c.754C > T
Test Type
Genetic Disease/Disorder
Details
Deficiency in pyruvate dehydrogenase phosphatase 1 is characterized by exercise intolerance, lactic acidosis, and collapse after exercise. Management includes exercise restriction and a high-fat diet with thiamine and carnitine supplementation. Breeders are recommended to use DNA tests to identify clear and carrier dogs to slowly breed away from this specific condition, as it seems to be present currently only in fairly rare breeds - Clumber and Sussex Spaniel.
Details 2
Deficiency in pyruvate dehydrogenase phosphatase 1 in Clumber and Sussex Spaniels is characterized by exercise intolerance, lactic acidosis, and collapse after exercise. The causative mutation is the same in these breeds. Affected dogs show exercise intolerance, lactic acidosis, and post-exercise collapse. Management includes exercise restriction and a high-fat diet with thiamine and carnitine supplementation (Cameron et al., 2007).
Published
Cameron, JM., Maj, MC., Levandovskiy, V., MacKay, N., Shelton, GD., Robinson, BH.: Identification of a canine model of pyruvate dehydrogenase phosphatase 1 deficiency. Mol Genet Metab 90:15-23, 2007. Pubmed reference: 17095275. DOI: 10.1016/j.ymgme.2006.09.011
Body/System/Process
Metabolic
OMIA Url
Inheritance
AR
Breed Specific Info
Researched Breeds
Clumber Spaniel, Sussex Spaniel
HSP Test-Specific Data
Laboratorios Labocor S.L.
GTP
GTP Name
Laboratorios Labocor S.L.
Breed
OMIA
Gene Name
PDP1
Mutation
c.754C>T
Certagen GmbH
GTP
GTP Name
Certagen GmbH
Breed
OMIA
Gene Name
PDP1
Mutation
c.754C>T
Orthopedic Foundation for Animals
GTP
GTP Name
Orthopedic Foundation for Animals
Breed
OMIA
GTP Disease Name
PDH Deficiency
Gene Name
MFN2
Mutation
c.754C>T
Nature of test
mutation test
GTP- or Breed-Specific Publications
Cameron, JM., Maj, MC., Levandovskiy, V., MacKay, N., Shelton, GD., Robinson, BH.: Identification of a canine model of pyruvate dehydrogenase phosphatase 1 deficiency. Mol Genet Metab 90:15-23, 2007.
Application in the Breed
Carriers may be bred to normal animals (N/pdd x N/N). Offspring should be tested before breeding . No breeding of two carriers (N/pdd x N/pdd) nor of affected animals (pdd/pdd). Exercise intolerance and collapsing after exercise (restricting exercise and specific diet)
Inheritance
AR
FCI Number
109
GTP Breed
Clumber Spaniel
VHL Genetics
GTP
GTP Name
VHL Genetics
Breed
OMIA
Gene Name
PDP1
Mutation
c.754C>T
Zoolyx
GTP
GTP Name
Zoolyx
Breed
OMIA
Gene Name
PDP1
Mutation
c.754C>T
Laboklin Gmbh & Co. KG
GTP
GTP Name
Laboklin Gmbh & Co. KG
Breed
OMIA
GTP Disease Name
PDH Deficiency
Gene Name
PDP1
Mutation
c.754C>T
Nature of test
mutation test
GTP- or Breed-Specific Publications
Cameron, JM., Maj, MC., Levandovskiy, V., MacKay, N., Shelton, GD., Robinson, BH.: Identification of a canine model of pyruvate dehydrogenase phosphatase 1 deficiency. Mol Genet Metab 90:15-23, 2007.
Application in the Breed
Carriers may be bred to normal animals (N/pdd x N/N). Offspring should be tested before breeding . No breeding of two carriers (N/pdd x N/pdd) nor of affected animals (pdd/pdd). Exercise intolerance and collapsing after exercise (restricting exercise and specific diet)
Inheritance
AR
FCI Number
109
GTP Breed
Clumber Spaniel
CMSCH
GTP
GTP Name
CMSCH
Breed
OMIA
Gene Name
PDP1
Mutation
c.754C>T
Progènes-ADN
GTP
GTP Name
Progenes ADN
Breed
OMIA
Gene Name
PDP1
Mutation
c.754C>T
EVG Diagnostics
GTP
GTP Name
EVG Molecular Diagnostics
Breed
OMIA
Gene Name
PDP1
Mutation
c.754C>T
DNA My Dog
GTP
GTP Name
DNA My Dog
Breed
OMIA
GTP Disease Name
PDH Deficiency
Gene Name
PDP1
Mutation
c.754C>T
Nature of test
mutation test
GTP- or Breed-Specific Publications
Cameron, JM., Maj, MC., Levandovskiy, V., MacKay, N., Shelton, GD., Robinson, BH.: Identification of a canine model of pyruvate dehydrogenase phosphatase 1 deficiency. Mol Genet Metab 90:15-23, 2007.
Application in the Breed
Carriers may be bred to normal animals (N/pdd x N/N). Offspring should be tested before breeding . No breeding of two carriers (N/pdd x N/pdd) nor of affected animals (pdd/pdd). Exercise intolerance and collapsing after exercise (restricting exercise and specific diet)
Inheritance
AR
This test is outsourced to:
Orivet
FCI Number
109
GTP Breed
Clumber Spaniel
PharmaDNA
GTP
GTP Name
PharmaDNA
Breed
OMIA
Gene Name
PDP1
Mutation
c.754C>T
INNO
GTP
GTP Name
INNO
Breed
OMIA
Gene Name
PDP1
Mutation
c.754C>T
Embark
GTP
GTP Name
Embark
Breed
OMIA
GTP Disease Name
PDH Deficiency
Gene Name
PDP1
Mutation
c.754C>T
Nature of test
mutation test
GTP- or Breed-Specific Publications
Cameron, JM., Maj, MC., Levandovskiy, V., MacKay, N., Shelton, GD., Robinson, BH.: Identification of a canine model of pyruvate dehydrogenase phosphatase 1 deficiency. Mol Genet Metab 90:15-23, 2007.
Application in the Breed
Carriers may be bred to normal animals (N/pdd x N/N). Offspring should be tested before breeding . No breeding of two carriers (N/pdd x N/pdd) nor of affected animals (pdd/pdd). Exercise intolerance and collapsing after exercise (restricting exercise and specific diet)
Inheritance
AR
FCI Number
109
GTP Breed
Clumber Spaniel
Genomia s.r.o
GTP
GTP Name
Genomia s.r.o
Breed
OMIA
GTP Disease Name
PDH Deficiency
Gene Name
PDP1
Mutation
c.829C>T
Mutation Comment
g.38788845C>T
Nature of test
mutation test
FCI Number
109
GTP Breed
Clumber Spaniel
AnimaLabs
GTP
GTP Name
AnimaLabs
Breed
OMIA
Agrotis S.r.l.
GTP
GTP Name
Agrotis S.r.l.
Breed
OMIA
Gene Name
PDP1
Mutation
c.754C>T
Paw Print Genetics
GTP
GTP Name
Paw Print Genetics
Breed
OMIA
GTP Disease Name
PDH Deficiency
Gene Name
PDP1
Mutation
c.754C>T
Nature of test
mutation test
FCI Number
109
GTP Breed
Clumber Spaniel
VetGen LLC
GTP
GTP Name
VetGen LLC
Breed
OMIA
Gene Name
PDP1
Mutation
c.754C>T
Wisdom Panel - Kinship
GTP
GTP Name
Wisdom Panel - Kinship
Breed
OMIA
GTP Disease Name
PDH Deficiency
Gene Name
PDP1
Mutation
c.754C>T
Nature of test
mutation test
GTP- or Breed-Specific Publications
Cameron, JM., Maj, MC., Levandovskiy, V., MacKay, N., Shelton, GD., Robinson, BH.: Identification of a canine model of pyruvate dehydrogenase phosphatase 1 deficiency. Mol Genet Metab 90:15-23, 2007.
Application in the Breed
Carriers may be bred to normal animals (N/pdd x N/N). Offspring should be tested before breeding . No breeding of two carriers (N/pdd x N/pdd) nor of affected animals (pdd/pdd). Exercise intolerance and collapsing after exercise (restricting exercise and specific diet)
Inheritance
AR
FCI Number
109
GTP Breed
Clumber Spaniel
Orivet Genetic Pet Care
GTP
GTP Name
Orivet Genetic Pet Care
Breed
OMIA
GTP Disease Name
PDH Deficiency
Gene Name
PDP1
Mutation
c.754C>T
Nature of test
mutation test
GTP- or Breed-Specific Publications
Cameron, JM., Maj, MC., Levandovskiy, V., MacKay, N., Shelton, GD., Robinson, BH.: Identification of a canine model of pyruvate dehydrogenase phosphatase 1 deficiency. Mol Genet Metab 90:15-23, 2007.
Application in the Breed
Carriers may be bred to normal animals (N/pdd x N/N). Offspring should be tested before breeding . No breeding of two carriers (N/pdd x N/pdd) nor of affected animals (pdd/pdd). Exercise intolerance and collapsing after exercise (restricting exercise and specific diet)
Inheritance
AR
FCI Number
109
GTP Breed
Clumber Spaniel
BioBank AS
GTP
GTP Name
BioBank AS
Breed
OMIA
Gene Name
PDP1
Mutation
c.754C>T
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