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Pyruvate Kinase (PK) Deficiency

Related Terms:

Erythrocyte Pyruvate Kinase Deficiency, PKDef, PKLR

Type: DNA
Sample Types: Cheek brushes/swabs, Fresh EDTA blood, Other
Sample Processing
Cost: $75.00
Species and Breeds:
Canine - Basenji
Canine - Beagle
Canine - Cairn Terrier
Canine - Labrador Retriever
Canine - Pug
Canine - West Highland White Terrier
Feline - Abyssinian
Feline - Somali
Feline - Bengal
Feline - Singapura

We do not provide kits. Please collect the sample following the sample collection and shipping instructions before ordering a test.

Clinical Signs:

Dogs: The age at which clinical signs become apparent varies by breed, but clinical signs are generally present before two years of age. Clinical signs include chronic severe hemolytic anemia (red blood cells are destroyed faster than they are made), hemosiderosis (excessive iron in tissues), secondary hemosiderosis due to chronic hemolysis (rupture of red blood cells), and osteosclerosis (abnormal hardening of bone). Dogs with this disease have a dramatically shortened life expectancy and are generally humanely euthanized around 2 years of age. Cats: Unlike in dogs, clinical signs may not be noted at all in cats with PK deficiency. Clinical signs may include lethargy and weakness due to anemia, and rarely collapse due to sudden onset severe anemia.

Life Expectancy:

Dogs: Poor – generally humanely euthanized upon diagnosis. Cats: Most often normal.

Inheritence Mode:

Autosomal recessive

Pathology:

Dogs: Hepatosplenomegaly, progressive myelofibrosis and osteosclerosis, hemochromatosis and cirrhosis of the liver. Cats: There may be progressive myelofibrosis and osteosclerosis.

Mutation:

PKLR and NM_001256262.1:c.433delC (Basenji) PKLR and NM_001256262.1:c.994G>A (Beagle) PKLR and NM_001256262.1:c.1431_1432insAAGACC (Cairn Terrier, West Highland White Terrier) PKLR and NM_001256262.1:c.799C>T (Labrador Retriever) PKLR and NM_001256262.1:c.848T>C (Pug) PKLR and XM_023247387.1:c.695-53G>A (Several Cat Breeds)

Explanation of Results
GenoType PhenoType Interpretation

2-2 (Homozygous Disease Variant)

Unhealthy (Affected)

Homozygous Affecteds (2-2) are expected to develop signs consistent with Pyruvate Kinase (PK) Deficiency and all of their offspring will inherit a disease variant allele. Parents, offspring and relatives should also be tested. You may choose to contact us for a consultation on the management of this disease. 1 = Normal allele; 2 = Variant allele.

1-2 (Heterozygous)

Healthy (Carrier)

Heterozygous Carriers (1-2) are not expected to develop signs of Pyruvate Kinase (PK) Deficiency but each of their offspring has a chance of inheriting a disease variant allele. Parents, offspring and relatives should also be tested. 1 = Normal allele; 2 = Variant allele.

1-1 (Homozygous Normal)

Healthy (Normal, Clear)

Homozygous Normals (1-1) are not expected to develop signs of Pyruvate Kinase (PK) Deficiency and none of their offspring will inherit the disease variant allele. 1 = Normal allele; 2 = Variant allele.
References:

Gultekin GI, Raj K, Foureman P, Lehman S, Manhart K, Abdulmalik O, Giger U. Erythrocytic pyruvate kinase mutations causing hemolytic anemia, osteosclerosis, and seconday hemochromatosis in dogs. J Vet Intern Med. 2012 Jul-Aug;26(4):935-44. doi: 10.1111/j.1939-1676.2012.00958.x. PMID: 22805166; PMCID: PMC3650904. Skelly BJ, Wallace M, Rajpurohit YR, Wang P, Giger U. Identification of a 6 base pair insertion in West Highland White Terriers with erythrocyte pyruvate kinase deficiency. Am J Vet Res. 1999 Sep;60(9):1169-72. PMID: 10490091. Whitney KM, Goodman SA, Bailey EM, Lothrop CD Jr. The molecular basis of canine pyruvate kinase deficiency. Exp Hematol. 1994 Aug;22(9):866-74. PMID: 7520391. Grahn RA, Grahn JC, Penedo MC, Helps CR, Lyons LA. Erythrocyte pyruvate kinase deficiency mutation identified in multiple breeds of domestic cats. BMC Vet Res. 2012 Oct 30;8:207. doi: 10.1186/1746-6148-8-207. PMID: 23110753; PMCID: PMC3534511.