What is PKDef Pyruvate Kinase Deficiency ?
Pyruvate kinase deficiency (PKdef) is a genetic inherited disorder that affects red blood cells.
The enzyme pyruvate kinase is used to produce the energy of red blood cells. A deficiency of pyruvate kinase prevents this energy production.
The red blood cells are thus destroyed prematurely and the cat is anemic.
PKdef has been described in many breeds: Abyssinian, Somali, Bengal, Maine Coon, Norvegian, European (gutter), Persian, Egyptian Mau, LaPerm, Savannah, Siberian, Singapura, Exotic Shorthair, Oriental.
Although PKdef anemia may be of varying severity, cats with PKdef have a normal life span. Phases of remission of anemia are usually observed in affected cats.
The symptoms of PK-def due to anemia are lethargy, weakness, exercise intolerance and weight loss.
Red blood cells shaped like stars due to pyruate kinase deficiency.
How to realize the PKDef test ?
The PKdef detection DNA test can be performed at 6-8 months old. Like all genetic tests, this test is very reliable.
The test is carried out using a buccal swab, which is quick and easy to perform.
- Buccal swab
- Blood in EDTA tube
- Blood in dry tube
Interpretation of results
PKdef is due to a mutation of the PKLR gene: 13 bp deletion on exon 5 of this gene (c.693 + 304G> A).
This mutation is hereditary according to an autosomal recessive mode with complete penetrance. This means that this mutation is transmitted to the (hereditary) offspring,
that it is localized on non-sexual (autosomal) chromosomes, that a single copy of the defective gene does not cause PKdef (recessive) and that the presence of the mutation in a cat with 2 defective copies necessarily leads to PKdef (penetrance) complete).
A homozygous result means that the cat carries the genetic mutation of PKdef. This cat will necessarily develop the PKdef during his life.
PKdef therefore presents a major risk:
- When it comes to a cat for the company, it is important to test the kitten to see if it will develop later by PKdef.
- When the cat is intended for reproduction, it is essential to perform this test to be sure that they will not transmit the PKdef to their offspring.
The test does not allow to determine the severity of the PKdef, nor the age of onset of symptoms.
Available breeds for the test : PKDef - Pyruvate Kinase Deficiency
The following breeds are recognized :
- Exotic Shorthair
- Maine Coon
- Mau Egyptien
Understanding results of the test : PKDef - Pyruvate Kinase Deficiency
Gene Mutation : PKLR c.693+304G>A
Heredity : autosomal recessive (more information)
Penetrance : incomplete (more information)
|Test result||PKDef - Pyruvate Kinase Deficiency status (PKLR c.693+304G>A)||Health status|
|N/N||No copy of the PKDef mutation||Animal is normal (clear)|
|N/PKDef||1 copy of the PKDef mutation||Animal is normal (clear)|
|PKDef/PKDef||2 copies of the PKDef mutation||Animal is, will or could be affected|
Cross table of the test : PKDef - Pyruvate Kinase Deficiency
|Mother N/N||Mother N/PKDef||Mother PKDef/PKDef|
|Father N/N||100% N/N||50% N/N|
|Father N/PKDef||50% N/N|
|Father PKDef/PKDef||100% N/PKDef||50% N/PKDef|
Certificate example for the test : PKDef - Pyruvate Kinase Deficiency
Click on the example certificate below to open it.