LaPerm — Pyruvate kinase deficiency of erythrocyte (hereditary; OMIA-verified breed predisposition)
Source: first-hand OMIA (University of Sydney) breed-specific hereditary-disorder record, saved verbatim to source_file; every claim below is a C1 byte-substring of it.
Claims
Breed: LaPerm (Cat)Disorder:Mode of inheritance: Autosomal recessive- `Clin feat: Pyruvate kinase (PK) is an essential catalyst in the production of ATP, PK deficiency (PKD) results in ATP depletion. This leads to shortened erythrocyte life span and haemolytic anaemia (Barrs et al., 2009; Al-Samkari et al., 2020). Although carriers are asymptomatic, only half of the normal PK activity is expressed (Kohn & Fumi 2008). Due to chronic, intermittent haemolytic anaemia, common PKD clinical signs include lethargy, weight loss, pale mucous membrane, inappetence, and jaundice. Blood work usually indicates anaemia with mild to moderate reticulocytosis and hyperbilirubinaemia. The severity of clinical signs and the age on onset is highly variable, ranging from one month to five years (Kohn & Fumi, 2008; Barrs et al., 2009; Grahn et al., 2012).