Déficit en phosphofructokinase (PFKD)

(American Cocker Spaniel, English Springer Spaniel, German Spaniel, Whippet)plus
Disease
autosomal recessive
Heredity
Muscle type phosphofructokinase deficiency is an inherited glycogen storage disease. Affected dogs display the following intermittent, clinical signs: weakness, lethargy, exercise intolerance, poor performance, muscle cramps, anaemia, jaundice and dark-coloured urine. Dark-coloured urine, a hallmark of this disorder, usually appears after strenuous exercise or after excessive barking, panting or heat exposure and is caused by the destruction of the erythrocytes.
Test duration
sequencing
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