Phosphofructokinase deficiency " "(PFKD) ""for breed see info

Phosphofructokinase deficiency (PFKD)


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.


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

Trait of inheritance


Test duration

1-2 weeks after arrival of the sample in the lab


The DNA test is performed out of EDTA blood or buccal swabs. Required swabs can be ordered free of charge. (Buccal swab order-form). If a swab is sent in, possibly the genetic material is not sufficient to run the test. In this case it would be best to send in an EDTA blood sample.

Testing procedure

Please send in your sample together with the lab order genetic. Results will be transmitted optionally via post, fax or email. After completion of the test you will receive a separate invoice. Payment can be made via credit card or bank transfer.
Breeding club discounts apply if a copy of the membership card is sent together with the respective samples. Due to administrative reasons the invoiced price can not be altered subsequently.


Please contact our molecular biology team for further questions.

Steubenstraße 4
D-97688 Bad Kissingen

Telefon: +49 (0)971 72020
Fax: +49 (0)971 68546


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