Glycogen Storage Disease Type VII in Dogs

Category: Blood
Inheritance: Autosomal recessive
Breeds documented: 3
Published sources: 5

Overview

An inherited shortage of phosphofructokinase, or PFK, an enzyme that helps release energy from sugar, affects red blood cells and muscles. Red blood cells may break down too quickly, causing anemia, which means a low red blood cell count. Muscles can also tire easily or cramp during activity. Episodes of red blood cell breakdown can follow hard exercise, overheating or prolonged barking, and may cause weakness or brown urine.

Signs to watch for

Tiring quickly during exercise
Episodes of weakness or unusual tiredness
Gums that look paler than usual
Brown urine

In English Springer Spaniels, signs typically begin between 4 and 6 months of age.

When to get help Book a vet visit if episodes of weakness, pale gums or brown urine occur.

Diagnosis and tests

Vets examine the dog and use blood tests to look for anemia from red blood cell breakdown. A specialized blood test can measure PFK activity. DNA testing can identify affected dogs and carriers, who carry a disease-related gene change without showing signs. The test must match the breed because the known gene changes differ between breeds.

Breeds with documented risk

3 breeds

By breed size

3 Medium

English Springer SpanielMedium · Sporting Group
WhippetMedium · Hound Group
Deutscher WachtelhundMedium · Foundation Stock Service

Inheritance

Autosomal recessive
A dog is affected only if it inherits two copies of the gene variant, one from each parent. A dog with one copy is a carrier: usually healthy, but able to pass the variant on. When two carriers are bred, on average one puppy in four is affected. A DNA test can tell clear, carrier and at-risk dogs apart.
As stated by OMIA

We've gathered what published sources say about this condition, so you can talk it through with your vet. It isn't veterinary advice: you and your vet know your dog best.