PK-A - Pyruvate Kinase Deficiency/Basenji

Race liée: 

Hemolytic anaemia

Description: 
Lack of the pyruvate kinase enzyme causing an early destruction of red blood cells, leading to a severe anaemia
Symptomes: 
Pale mucous membranes, lethargy, exercise intolerance abnormal bone density, liver failure, shortened life expectancy
Age d'aparition: 
Between 4 months and 2 years old
Fréquence: 
Not available
Gène impliqué: 
PKLR
Mutation testée: 
c.433delC
Transmission: 
Autosomal Recessive
Brevet: 
-