Phosphofructokinase Deficiency (PFKD)

Breed

 English Springer Spaniels, American Cocker Spaniel

The disease

Muscle type phosphofructokinase deficiency is an autosomal recessive inherited glycogen storage disease. It is caused by a nonsense mutation, which leads to a lack of phosphofructokinase subunits or activity. Affected dogs display the following intermittent, clinical signs: weakness, lethargy, exercise intolerance, poor performance, muscle cramps, anaemia, jaundice and dark-coloured urine.

The Trait of Inheritance  

Phosphofructokinase Deficiency is inherited in an autosomal recessive trait. This means that an English Springer Spaniel can be genetically clear (also called homozygous normal), a carrier (also called heterozygous) or affected concerning the Phosphofructokinase Deficiency respectively. Especially the carriers can spread the diseased gene in the population. Therefore reliable information of dogs that do not carry disease genes is the key to controlling this disease.

The test  

By DNA testing the responsible mutation can be shown directly. This method provides a very high test accuracy and can be done at any age. It offers the possibility to distinguish not only between affected and normal / unaffected dogs but also to identify clinically healthy carriers.

This is an essential information for controlling the disease in the breed as carriers are able to spread the disease in the population but can not be identified by means of common laboratory diagnostic. If a particularly valuable dog turns out to be a carrier, it can be bred to a clear animal, and non-carrier puppies saved for the next round of breeding. 

Sample Material

The tests are performed out of EDTA whole blood (1 ml).

Method

Sequencing

Duration

1 week

For further information please contact

Dr. Petra Kühnlein or Dr. Ines Langbein-Detsch
LABOKLIN GmbH & Co.KG
Steubenstraße 4
D-97688 Bad Kissingen /german

Phone: +49-971-72020 /72020 or Fax: +49-971 / 7202995
Email: labogenlaboklin.de