Phosphofructokinase deficiency (PFKD)

General description

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.

Breeds

American Cocker Spaniel, English Springer Spaniel, German Spaniel, Whippet

Detailed description

Muscle type phosphofructokinase deficiency is an inherited glycogen storage disease. It is caused by a nonsense mutation, which leads to a lack of phosphofructokinase subunits or activity. Without the PFK enzyme muscle cells and erythrocytes are not able to produce enough adequate energy for their needs. Therefore 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.

Phosphofructokinase Deficiency (PFKD) - American Cocker Spaniel, English Springer Spaniel, Whippet

The symptoms described in this breed can be found in the text above.

Order details

Test number	8017
Sample material	0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT)
Test duration	7-14 working days

Test specifications

Symptom complex	hematologic
Inheritance	autosomal recessive
Causality	causally
Gene	PFKM
Mutation	C-T
Literature	OMIA:000421-9615

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Phosphofructokinase Deficiency (PFKD) - German Spaniel