pyruvate kinase deficiency

ICD-10: D55.2MeSH: C564858ORPHA: 900311 Treatment Available

Overview

congenital nonspherocytic hemolytic anemia that has material basis in homozygous or compound heterozygous mutation in the PKLR gene on chromosome 1q22

Available Treatments (1)

DrugFormStatusCountriesLead Time
mitapivat
Orphan
Oral tablet, 5mg, 20mg, 50mgFDA Approved (2022), EMA Approved (2022)510d

Classification & Codes

ICD-10 Code

D55.2

MeSH Code

C564858

Orphanet Code

ORPHA:90031
pyruvate kinase deficiency
ICD-10D55.2
MeSHC564858
OrphanetORPHA:90031
Treatments1 drug(s)
Statuspublished

Treatment Summary

Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO