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Study of PK deficiency in MCO and NFO

Ongoing study of pyruvate kinase deficiency in Maine Coon and Norwegian Forest Cats
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Dear Breeders of Maine Coon cats and Norwegian Forest Cats,
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In our cats, anemia can arise for very different reasons.
Anemia is characterized by either a deficiency or an uncompensated loss of red blood cells or hemoglobin.
Anemia can develop in various ways, for example as a result of:
  • Infectious diseases (FeLV, FIV, FIP)
  • Bacterial infections
  • Infection with certain parasites
  • Chronic inflammation
  • Immunological malfunctions
  • Poisoning
  • Tumors
  • Accidents
  • Gene defects
Genetic defects
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One of the major genetic defects in this context is the so-called Pyrovatkinase deficiency, also called PK deficiency.
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The Pyrovatkinase is an essential enzyme for energy production in the body. By lack of this enzyme, the life of the red blood cells is greatly reduced. As a result, there is a faster degradation of the red blood cells.
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Clinical signs may be varied:
  • Pale mucous membranes
  • Non-specific fatigue
  • Apathy
  • Reluctance to eat
  • Jaundice
  • Liver changes
  • Inflammation of the bile ducts
  • Spontaneous collapse

The symptoms and syndromes can occur repeatedly (intermittent) or result in the spontaneous death of the cat.
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Common triggers are additional stress factors:

  • Operations
  • Births
  • Exhibitions
  • Parasites

Some cats seem to compensate the PK deficiency for a certain period of time and the vet will only find recurring, mild to severe reticulocytosis (increased incidence of immature precursors of erythrocytes (red blood cells) in the blood), inflammation in the biliary system or an enlargement of the spleen as a result of the accelerated decomposition of the erythrocytes.
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The disease is always different, and some cats develop the disease at the age of a few months (others only during the first years of life).
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The PK deficiency was first described in 1992 in a male Abyssinian cat as an autosomal recessive genetic disease.
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But due to intensive research, this disease could be detected in other breeds as :

  • Abyssinian
  • Egyptian Mau
  • Bengal
  • Domestic long and short hair
  • La Perm
  • Savannah
  • Siberian cat
  • Singapura
  • Somali
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    but also
  • Maine Coon
  • Norwegian Forest Cat

The PK deficiency is autosomal recessive, so only cats that carry two mutated genes get ill.
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Cats with only one altered gene remain asymptomatic, but are carriers of the disease and can inherit the defect to their offspring.
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Test results

Status PK deficiency

N/N

not affected gene - normal cat

N/K

One affected gene - Cat clinically normal but carrier

K/K

2 affected genes - cat is affected
 - The disease can not be predicted


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In early 2000, Prof. Dr. Urs Giger / Pen University, developed a genetic test. This genetic test is VERY important for Abyssinian and Somali breeders today.
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In a new study in the U.S., it could be shown that the PK deficiency also occurs in significant amount in other breeds, among others, two popular breeds in Europe: the Maine Coon Cat and the Norwegian Forest Cat!
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For this reason, the Interest Group Heart Healthy Cats took, in collaboration with the University of Davis / California, the initiative to clarify the following questions:

  • Are catteries in Europe affected?
  • Do we have carrier animals within these breeds, in Europe?

Therefore, it is of immense importance to test all animals (used for breeding), to prevent a mating between two carrier cats!
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Although this genetic defect is (according to the latest state of science) an autosomal recessive inheritance, the effort should be in the long run: a complete elimination of this hereditary disease from our gene pools!
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Although, in some cases, blood transfusions can help in the short term, the disease is always fatal!
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Please be sure to test your animals and prevent the death of your cat by this disease!
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Dr. med. Marietta Bartels
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www.Katzenpraxis-duesseldorf.de

Study participation

There are three ways to participate in this important study (for Maine Coon cats and Norwegian Forest Cats)
For the comparability of the data it is important that the genetic tests have to be performed in the same laboratory, UC Davis.
Please choose one of the following possibilities:

  • Study participation via IG Heart Healthy Cat eV / framework contract UC Davis
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    Do you want to have your cat tested on PK deficiency?
    Do you want to take part in the study and do you want to have the result published?
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    The interest group Heart Healthy Cat eV has signed a framework agreement with the U.S. Labor UC Davis. (UC Davis is the laboratory that conducted the current study, which led to the discovery of several affected cat breeds).
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    You can have your cat tested by order via IG HGK e. V.!
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    This framework agreement IG HGK eV with UC Davis provides a price of $ 30.00 per test.
    Depending on the current exchange rate, this is about 25.00 € - and thus less than half of what would be required in a German laboratory.
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    In return for the reduced test conditions, you will have to agree that the results of genetic testing will not only be forwarded to Dr. med. Marietta Bartels, but, in addition, you will have to agree to have them published in the database of IG HGK to generate publicly transparency about affected / free lines.
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    If you want to have your cat tested on PK deficiency by order via IG HGK e. V.,
    please choose:
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    studyparticipationframe
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  • Study participation via IG Heart Healthy Cat eV / UC Davis in own commission
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    Do you have already your cats tested on PK deficiency at UC Davis?
    Do you want to take part in the study and do you want to have the result published?
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    Or:
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    Do you want to order the tests at UC Davis directly?
    Do you want to take part in the study and do you want to have the result published?
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    If your cats are (or will be) tested on PK deficiency at UC Davis, and you want the results of genetic testing to be forwarded to Dr. med Marietta Bartels for the study and to be published in the database of IG Heart Healthy Cat Association (to generate publicly transparency about affected / free lines), you can send the result of your cat along with some data for the study (such as weight, age at sampling, data of the parent animals, diseases, disease reports) to the IG Heart Healthy Cat eV.
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    If you want to send your PK deficiency results to IG HGK e. V. for study and publication,
    please choose:
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    studyparticipationighgk
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  • Study participation via Dr. med. Marietta Bartels / UC Davis in own commission
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    Do you have already your cats tested on PK deficiency at UC Davis?
    Do you want to take part in the study and do you not want to have the result published?
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    Or:
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    Do you want to order the tests at UC Davis directly?
    Do you want to take part in the study and do you not want to have the result published?
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    If you have no interest to make public the results of genetic testing, but only want to participate in the study by Dr. med. Marietta Bartels, you can send the result of the genetic testing (conducted at UC Davis) together with some data for the study (such as weight, age at sampling, data of the parent animals, diseases, disease reports) directly to Dr. vet. med Marietta Bartels.
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    If you want to send your PK deficiency results only to Dr. Bartels for the study without any publication, please choose:
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    studyparticipationdrbartels

Please support Dr. med. Marietta Bartels in carrying out this study, by participating in one of the above mentioned ways.

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Publication of genetic testing results from other laboratories (without study attendance)

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Do you have already your cats tested on PK deficiency at another laboratory?
Do you want to have the result published?
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Or:
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Do you want to order the tests at another laboratory?
Do you want to have the result published?
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If you have had your cat(s) already tested on PK deficiency at another laboratory (or will have your cat(s) tested at another laboratory), you can’t participate in the study. But if you want to generate publicly transparency about affected / free lines, then you can send the genetic test results both to the IG Heart Healthy Cat eV as also to the database health.mcats.de and / or pawpeds.com.
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If you want to send your PK deficiency results to IG HGK e. V. for publication,
please choose:

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    publication
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Only together we can learn more about this newly detectable disease and create opportunities to minimize them.

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last update on 19 June 2013

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