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Pyruvate Dehydrogenase Deficiency

Breed: Clumber Spaniel

Generic Phene Data

General

Disease Name
Pyruvate Dehydrogenase Deficiency
OMIA
1406
Gene Name
PDP1
Mutation
c.754C > T
OMIM
608782
Disease Code
PDH
Test Type
Genetic Disease/Disorder
Synonyms/Related Terms
PDH Deficiency
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
Inheritance
AR
Gene Name Text
pyruvate dehyrogenase phosphatase catalytic subunit 1

Breed Specific Data

CAG GmbH Center for Animal Genetics

Link to GTP
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

Embark

Link to GTP
GTP
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

EVG Diagnostics

Link to GTP
Gene Name
PDP1
Mutation
c.754C>T
Nature of test
mutation test
GTP- or Breed-Specific Publications
Mol Genet Metab. 2007 Jan;90(1):15-23

Genomia s.r.o

Link to GTP
GTP Disease Name
PDH Deficiency
Gene Name
PDP1
Mutation
c.754C>T
Nature of test
mutation test

Genoscoper Laboratories Oy

Link to GTP
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

Laboklin Gmbh & Co. KG

Link to GTP
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

Orivet Genetic Pet Care

Link to GTP
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

Orthopedic Foundation for Animals

Link to GTP
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

Paw Print Genetics

Link to GTP
GTP Disease Name
PDH Deficiency
Gene Name
PDP1
Mutation
c.754C>T
Nature of test
mutation test

VHL Genetics

Link to GTP
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

Wisdom Health (formerly Mars Veterinary)

Link to GTP
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

DNA My Dog

Link to GTP
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

VetGen LLC

Link to GTP
Gene Name
PDP1
Mutation
c.754C>T
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