LABOKLIN (UK)| Genetic Diseases | Cats| PK Deficiency (Pyruvate Kinase Deficiency)

PK Deficiency (Pyruvate Kinase Deficiency)

Test number: 8047 (this test number replaces the old 8015CGD)
Gene: PK
Price: £ 48.00 (including VAT)

Breeds

Abyssinian , Bengal (Leopard cat) , Domestic Longhair , Domestic Shorthair , Egyptian Mau , LaPerm Longhair , LaPerm Shorthair , Maine Coon , Norwegian Forest Cat , Ocicat , Savannah , Siberian , Singapura , Somali .

The Disease

Pyruvate kinase (PK) is an enzyme critical to the anaerobic glycolytic pathway of energy production in the erythrocyte. If erythrocytes are deficient in PK they are unable to sustain normal cell metabolism and hence are destroyed prematurely. This deficiency manifests as an hemolytic anemia of variable severity with a strong regenerative response. In cats, PK deficiency has been described in Abyssinian and Somali cats. The feline disease differs from the canine disease in that affected cats can have a normal life span, only intermittently have anemia, and do not seem to develop either osteosclerosis or liver failure. The clinical signs of disease reflect the anemic status of the animal and include exercise intolerance, weakness, heart murmur and splenomegaly.

Trait of Inheritance

PK is inherited as an autosomal recessive condition. Heterozygotes (carriers) do not have any clinical signs of disease and live normal lives. They are able to propagate mutations throughout the population however and it is therefore important that carrier animals are detected prior to breeding. PK deficiency can be detected, using molecular genetic testing techniques. These tests identify both affected and carrier animals. It is also possible to identify animals deficient in PK activity through enzyme analysis in those breeds where a molecular genetic test is not available.

Inheritance : AUTOSOMAL RECESSIVE trait

Sire	Dam	Offspring

clear	clear	100% clear

clear	carrier	50% clear + 50% carriers

clear	affected	100% carriers

carrier	clear	50% clear + 50% carriers

carrier	carrier	25% clear + 25% affected + 50% carriers

carrier	affected	50% carriers + 50% affected

affected	clear	100% carriers

affected	carrier	50% carriers + 50% affected

affected	affected	100% affected

Clear

Genotype: N / N [ Homozygous normal ]

The cat is noncarrier of the mutant gene.
It is very unlikely that the cat will develop PK Deficiency (Pyruvate Kinase Deficiency). The cat will never pass the mutation to its offspring, and therefore it can be bred to any other cat.

Carrier

Genotype: N / PK [ Heterozygous ]

The cat carries one copy of the mutant gene and one copy of the normal gene.
It is very unlikely that the cat will develop PK Deficiency (Pyruvate Kinase Deficiency) but since it carries the mutant gene, it can pass it on to its offspring with the probability of 50%.
Carriers should only be bred to clear cats.
Avoid breeding carrier to carrier because 25% of their offspring is expected to be affected (see table above)

Affected

Genotype: PK / PK [ Homozygous mutant ]

The cat carries two copies of the mutant gene and therefore it will pass the mutant gene to its entire offspring.
The cat is likely to develop PK Deficiency (Pyruvate Kinase Deficiency) and will pass the mutant gene to its entire offspring

Description

PK - The Mutation-based Test and its Advantages The genetic defect leading to the disease has been identified. By DNA testing the responsible mutation can be shown directly. This method provides a very high accuracy test and can be done at any age. It offers the possibility to distinguish not only between affected and clear 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 animal turns out to be a carrier, it can be bred to a non-affected animal, and non-carrier puppies can be saved for the next round of breeding.

Sample Requirements

Whole blood in EDTA tube (0.5 - 1 ml) or Buccal Swabs.

Turnaround

1 - 2 weeks

Price

£ 48.00 (including VAT)