Short answer · Medically reviewed summary · Last updated: 2026-05-08
Pyruvate Kinase Deficiency (PKD) is classified under the ICD-10-CM system with the code D55.21 (Anemia due to pyruvate kinase deficiency). In the older ICD-9-CM coding system, this condition was identified by the code 282.3 (Other hereditary hemolytic anemias). What is the clinical significance of Pyruvate Kinase Deficiency? Pyruvate Kinase Deficiency is a rare, hereditary metabolic disorder that affects red blood cells.
ICD10 code of Pyruvate Kinase Deficiency and ICD9 code
ICD-10 and ICD-9 codes for Pyruvate Kinase Deficiency, with classification details for clinicians, coders and patients.
Pyruvate Kinase Deficiency (PKD) is classified under the ICD-10-CM system with the code D55.21 (Anemia due to pyruvate kinase deficiency). In the older ICD-9-CM coding system, this condition was identified by the code 282.3 (Other hereditary hemolytic anemias).
What is the clinical significance of Pyruvate Kinase Deficiency?
Pyruvate Kinase Deficiency is a rare, hereditary metabolic disorder that affects red blood cells. Because the enzyme pyruvate kinase is missing or dysfunctional, red blood cells cannot produce enough energy, leading to their premature destruction, known as chronic nonspherocytic hemolytic anemia. Currently, 6 members of the DiseaseMaps.org community are sharing their lived experiences with Pyruvate Kinase Deficiency, highlighting the importance of tracking both clinical and quality-of-life data for this rare condition.
How is Pyruvate Kinase Deficiency inherited?
Pyruvate Kinase Deficiency follows an autosomal recessive inheritance pattern. This means an individual must inherit two mutated copies of the PKLR gene—one from each parent—to manifest the disease. Carriers (who have only one mutated gene) are typically asymptomatic. Genetic counseling is essential for families navigating the risks associated with Pyruvate Kinase Deficiency.
What are the primary diagnostic markers?
Diagnosis of Pyruvate Kinase Deficiency involves a combination of clinical assessment and laboratory testing. Key diagnostic indicators include:
- Enzyme Assay: Measuring the activity levels of pyruvate kinase in red blood cells.
- Molecular Genetic Testing: Identifying pathogenic variants in the PKLR gene.
- Blood Smear Analysis: Observing evidence of hemolysis, such as reticulocytosis (elevated immature red blood cells).
- Clinical presentation: Monitoring for jaundice, splenomegaly, and symptoms of chronic anemia.
Next steps
- Consult a hematologist specializing in rare red blood cell enzymopathies.
- Request a genetic consultation to discuss family planning and carrier testing.
- Connect with the Pyruvate Kinase Deficiency community on DiseaseMaps.org to share resources and support.
- Monitor updates on clinical trials and new therapies via the NIH GARD portal.
Medical disclaimer: This information is for educational purposes only and does not replace professional medical advice, diagnosis, or treatment.
References
- NIH Genetic and Rare Diseases Information Center (GARD): Pyruvate kinase deficiency.
- Orphanet: Pyruvate kinase deficiency (ORPHA: 765).
- OMIM (Online Mendelian Inheritance in Man): Anemia, nonspherocytic hemolytic, due to PK deficiency (#266200).
- Pyruvate Kinase Deficiency Foundation (PKDF).
