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Our Veterinarians,  Specialists and analysis laboratories

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-All of our Cats are tested annually and occasionally

for genetic diseases and  for:  

 

ANNUALLY -HCM- Hypertrophic Cardiomyopathy: read more  

OCCASIONALLY-HD- Hip dysplasia: learn more

OCCASIONALLY-Fiv

OCCASIONALLY - Felv

 GENETICO- GSD 4: learn more

 1 VOLTA -PKD - Polycystic Kidney Syndrome: find out more

GENETIC -PK-Def-Pyruvate Kinase Deficiency: read more :  

TO THE INSERTION OF A NEW CAT -TriTrichomonas -  Giardia-5c3b-136bad5cf58d_bad5-136c3 -5cf58d_Giardia-136 bb3b-136bad5cf58d_Felv

EACH LITTER- Giardia

EACH LITTER- Parasitological faeces

 

All NEGATIVE in 2019

 

IN ADDITION: All our puppies leave our home with their health record which includes:

Veterinary certificate of good health.

Parental tests (see above)  e when possible also those carried out on grandparents,

especially with regard to hypertrophic cadiomyopathy (HCM)

​

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Pyruvate Kinase Deficiency (PK-Def)

 

 

Pyruvate kinase deficiency (PK-Def for short) is a genetically based disease. Pyruvate kinase is an enzyme found inside red blood cells and controls their ability to produce energy to survive. When the enzyme is deficient, the red blood cells undergo premature destruction (erythrolysis) and this therefore leads to a reduction in their blood number. The resulting anemia is therefore the primary consequence of the deficit.

However, the diagnosis of PK-Def on a symptomatic basis can be very difficult: since the cat's body is able to adapt the production of red blood cells in the face of their decrease, anemia can occur occasionally or intermittently. The development of the disease is slow, in most cases, with vague symptoms such as lethargy and loss of appetite. However, there is the possibility that the cat will develop very severe anemia, which could put its survival at risk.

PK-Def is a congenital disease with a genetic basis, for which there is no cure and, since anemia is very often mild, the clinical signs may not be immediately obvious and therefore the condition may be underestimated for a long time. There are cases of deaths within two years, but also cases where the life expectancy is long (over 8 years). It is essential for a cat affected by the disease that its living conditions are optimal and that stressful events are avoided as much as possible.

The disease is typical of the Abyssinian and Somali breeds, but can be found in breeds that have undergone hybridization with the Abyssinians or Somalis as well as in domestic cats.

 

Genetic profile

PK-Def is an autosomal recessive disease. This means that a cat can be defined:

  • normal: does not have any copy of the defective gene, will not become ill with the disease or pass the disease to the offspring

  • carrier: in the pair of alleles that define the disease, there is a defective allele. The cat will never get sick, but it will be able to pass the mutation to the offspring

  • affected: the pair of alleles is composed of two defective chromosomes. The cat will develop the disease and will certainly pass the mutation on to the offspring.

 

In case of mating between two PK-Def carriers, since both parents have a copy of the defective gene, they will be able to pass the mutation to the offspring. Specifically, two carriers will generate 25% of puppies affected by the disease, 50% of carrier puppies and 25% of healthy puppies.

 

In case of mating between a carrier cat and a healthy cat (ie not a carrier of the deficiency), we will have 50% carrier cats and 50% healthy cats.

In a mating between two affected cats, 100% of the offspring will be affected.

Management on the farm

From a breeding point of view, affected cats should not be used for breeding. It is possible to use carrier cats, obviously defining a control and negativization plan of the line, to manage the pathology as much as possible and go towards the eradication of the pathology in the breed. In the Abyssinian and Somali breeding, due to the small number of subjects currently working with, the breeding plans include the conscious use of carriers, because their carpet sterilization would involve serious problems of numerical consistency of the gene pool.

In general, what needs to be done when deciding to use a carrier on the farm is to mate it with non-carrier cats, test the litter and prefer to continue working on the line keeping mutation-negative cats on the farm. In this way, the dual objective of "cleaning" the bloodline and, at the same time, of preserving it will be achieved.

The UC Davis study

As we have already published in the previous article,   News on PK-Def in Norwegian Forest Norwegian, un  recent study by UC Davis_cc781905-5cde-3194_badica-136b3b the disease is also present in the Norwegian Forest Cat, although at present we do not yet have precise indications on the gene frequency and on the consequent percentages of carriers and affections in the breed.

We therefore suggest, in this first phase, to test your cats and to submit the results of the tests to the public databases for collecting the results, to allow a more in-depth study on the spread of the mutation.

Where to take the test

Since the mutation found in the Norwegian Forest Cat is the same as the one found in the Abyssinians and Somalis for which genetic testing already exists, it is possible to test your cats in different laboratories that are already certified to perform the test. It is possible to perform the test with either a blood sample or a buccal sample. Here is a non-exhaustive list of the laboratories to which you can turn:

Type IV Glycogenosis

 

 

GSD IV (glycogen storage disease type IV) is part of a group of diseases, called glycogenoses. Type IV affects the Norwegian Forest Cat. They are well described pathologies also in humans, classified as rare diseases.
In a normal organism, the excess glucose obtained from the diet or from the conversion of proteins and fats is stored in a branched chain of polymers, glycogen, built using the enzyme GBE (glycogen branching enzyme) as a catalyst. When the body needs energy, glucose molecules are removed from the glycogen and released into the bloodstream or used by the tissues. The ability to efficiently add and remove glucose from glycogen depends on the complexity of its branching structure.
GSD IV is a  hereditary deficiency of the GBE enzyme: affected subjects store an abnormal form of glycogen which, therefore, leads to an insufficient use of glucose. Hence GSD IV can be considered a chronic hypoglycemia that inexorably worsens towards death (because the body is unable to use glucose effectively).
In cats, affected kittens die a few hours or days after birth, most likely because they do not have enough glucose to survive delivery and the first hours / days of life. The late form is rarer, for which the puppy is healthy up to 5/7 months and then suddenly shows a stunted growth and widespread weakness, with the following symptoms:

  • high hyperthermia (over 40 °), insensitive to corticosteroids

  • intermittent and generalized tremors that become permanent

  • intermittent, "hiccup" weakness

  • muscle weakness, followed by muscle atrophy, fibrotic contractures of

  • joints that lead to movement and feeding difficulties and that require continuous assistance from the owner

  • quadriplegia

Affected cats can survive up to 10/14 months. They die of cardiac arrest, sometimes after coma.
The disease is fatal and there is no cure.
It is possible that it is confused with neonatal isoerythrolysis  because the symptoms can suggest both pathologies. The only thing that can be done is the test (genetic for GSD IV, blood group identification with B allele typing for neonatal isoerythrolysis).

Genetic profile

The GDS IV mutation is recessive, which implies that the possibility of it expressing itself in the offspring exists only if both parents are carriers of the mutation.
There are 3 different possibilities:

  • both parents are healthy (they are homozygous for the normal allele): the children are healthy and will not carry the mutation.

  • if one of the parents is carrier (heterozygous) we will have about 50% carrier and 50% healthy cats among their offspring.

  • When two carriers are mated we get 25% sick cats, 50% carriers and 25% healthy cats.

Recall that a carrier cat is a cat that does not have the disease and that will never develop it. However, he will be able to  to transmit the mutation to his children.

The test

A genetic test, on blood or buccal swab, is available to identify not only affected cats but also carriers.
Some laboratories that perform this test are:

Vetogenic
Genefast
Antagen
Genindexe
Laboklin
PennGen

Each laboratory provides for the sending home, upon request, of the test material (swabs or blood collection tubes), together with the necessary documentation. In some cases it is required, for a correct identification of the cat, that the microchip is applied.

 

Insights

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The health of our cats 

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