Autres noms: PK deficiency
En anglais: Pyruvate kinase deficiency
Gène affecté: PKLR 
Transmission: Autosomal récessif
Mutation: F1 g.70310110G>A c.707-53G>A (XM_023247386.1:c.707-53G>A; published as c.693+304G>A)
Lien OMIA:  000844-9685
 
Races appropriées pour les tests : 
Abyssin, Angora turc, Bengal, Bobtail américain, Caracat, Chat des forêts norvégiennes, Chat domestique, Chat domestique à poil court, Chat domestique à poil long, Chausie, European Shorthair, Highland Lynx, LaPerm, Lykoi, Maine Coon, Mau égyptien, Minuet, Munchkin, Neva masquerade, Pixie-bob, Ragdoll, Savannah, Sibérien, Singapura, Somali, Sphynx, Toyger
 

Références:
Kushida K, Giger U, Tsutsui T et al. (2015) Real-time PCR genotyping assay for feline erythrocyte pyruvate kinase deficiency and mutant allele frequency in purebred cats in Japan. J Vet Med Science 77(6):743-746. [pubmed/25716288]
Grahn RA, Grahn JC, Penedo MC et al. (2012) Erythrocyte pyruvate kinase deficiency mutation identified in multiple breeds of domestic cats. BMC Vet Res. 8:207. [pubmed/23110753]
Barrs VR, Giger U, Wilson B, Chan CT, Lingard AE, Tran L, Beatty, JA. (2009). Erythrocytic pyruvate kinase deficiency and AB blood types in Australian Abyssinian and Somali cats. Australian Veterinary Journal, 87(1), 39–44. [pubmed/19178476]
Kohn B, Fumi C. (2008) Clinical course of pyruvate kinase deficiency in Abyssinian and Somali Cats. J Feline Med Surg. 10(2):145-53. [pubmed/18077199]