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Mutation: SLC5A5 gene
Sie wird durch anatomische Anomalien im Gehirn beschrieben - ein kleineres oder nicht entwickeltes Kleinhirn
Affected dogs have difficulty breathing accompanied by a high-pitched sound (stridor)
Symptoms include progressive deterioration of central vision
DCM ist eine Störung multifaktorieller Natur
Pyruvatdehydrogenasedefizienz (PDP1) Diversität Mutation: SLC5A5 geneExercise intolerance syndromes in humans and animals are well known to be associated with inborn errors of metabolism affecting glycolysis and fatty acid oxidation. PDP1 is a hereditary disease in Clumber and Sussex Spaniels. Disease is caused by deficiency of pyruvate dehydrogenase phosphatase 1, an enzyme that activates the pyruvate dehydrogenase complex. This enzyme complex is presented in every cell of the body and is involved in energy
