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pyruvate kinase deficiency
Pathology:
- deficiency of enzyme pyruvate kinase in erythrocytes
- hemolytic anemia
Genetics:
- autosomal recessive
Clinical manifestations:
- anemia
- jaundice, icterus
- fatigue, lethargy
- pallor
Laboratory:
- serum bilirubin
- complete blood count (CBC)
- macrocytosis
- pyruvate kinase genotyping
- serum haptoglobin
- osmotic fragility
- pyruvate kinase in erythrocytes
- stool urobilinogen
- see ARUP consult [3]
Complications:
- bilirubin gallstones
Management:
- blood transfusions as needed
- exchange transfusion may be needed in newborns with jaundice
- splenectomy may reduce hemolysis
- mitapivat (Pyrukynd) is a pyruvate kinase activator FDA-approved to treat hemolytic anemia in adults with pyruvate kinase deficiency
Related
pyruvate kinase
General
carbohydrate inborn error of metabolism
References
- PubMed Health: Pyruvate kinase deficiency
http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002177/
- Frye RE
eMedicine (Medscape): Pyruvate Kinase Deficiency
http://emedicine.medscape.com/article/125096-overview
- ARUP consult:
Pyruvate Kinase Deficiency (PKLR) Sequencing
https://arupconsult.com/ati/pyruvate-kinase-deficiency-pklr-sequencing