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Pyruvate kinase deficiency
congenital nonspherocytic hemolytic anemia that has material basis in homozygous or compound heterozygous mutation in the PKLR gene on chromosome 1q22
Pronunciation
/pəˈruˌveɪt ˈkaɪneɪs dəˈfɪʃənsi/
/pʌɪˈruːveɪt ˈkʌɪneɪz dɪˈfɪʃənsi/
Categories
autosomal recessive disease
genetic disease
rare disease