Eurofins Biomnis code

PKE

Synonyms

• Erythrocyte pyruvate kinase

Specialty

Biochemistry

Clinical significance

Congenital deficiency of pyruvate kinase (PK) activity in erythrocytes is an autosomal recessive trait which affects the anaerobic glycolysis pathway. Heterozygotes are usually asymptomatic but homozygotes are prone to chronic, medium-level hemolytic anemia with jaundice and variable splenomegaly. The condition can sometimes be complicated by pigmentary lithiasis and hemochromatosis.Reduced PK activity has been reported in certain kinds of acquired hemopathy including refractory anemia, erythropoietic disorders and acute granulocytic leukemia. In children under one year of age, an erythrocyte PK assay may be difficult to interpret due to unstabilised erythropoiesis and possible passage of erythroblasts into the bloodstream, especially in a haemolytic context. To eliminate a PK deficiency, a parental sample for PK content is recommended. Enclose consent for possible genetic analysis, in parallel with the child.

Preanalytics

• 5 mL :
• whole blood
•   Reftrigerated

• A tube specifically for this analysis : Yes

Further information

1 individual aliquot for this analysis.
Dosage at a distance from any transfusion less than 3 months old

Specific equipment available

• T16: ACD tube (provided on request)

Methodology

Spectrophotometry

Turnaround time

2 weeks

Caption