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Pyruvate Dehydrogenase Deficiency

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
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